Children’s health

5.4 Children’s health



Chapter 5.4a Introduction to children’s health



Learning points



At the end of this chapter you will be able to:


• explain why children have special health needs

• list the special health needs of children.

Estimated time for chapter: 90 minutes.



Why do children have special health needs?


This last section of Stage 5 is dedicated to the special health needs of children and the disorders that can affect children. That children have particular health needs is reflected in the fact that in conventional medical practice the speciality of paediatrics requires further training over and above that required of a general physician. Although children may be vulnerable to many of the conditions which have already been described in this text, there is a wide range of conditions of childhood that can develop because the physiology and the susceptibility of the child are different from that of the adult (see Q.5.4a-1)image.


There are, of course, many conditions from which the child is protected because of its youth. These conditions are the chronic adult diseases that result from the cumulative effects of an unhealthy lifestyle and ageing. For this reason, a child is usually not vulnerable to some of the most important adult diseases such as coronary heart disease, stroke, adult cancers and the degenerative diseases of old age, such as osteoarthritis and Alzheimer’s disease.



What are the special health needs of children?


Children have special health needs for two overarching reasons: first, the physiology of the child is immature; and, second, the child is in a process of rapid growth and development. These factors combine to give a third reason why children need special focus, which is that any illness developing in a growing child as a result of immature physiology may cause setbacks in growth and development, which may have lasting, even life-long, consequences. These three reasons are now explored in more detail.



The physiology of the child is immature


Immaturity of the immune system in children means that a child may be more susceptible to conditions from which adults are relatively protected. These conditions include certain infections and allergies. Also, a child who is ill is more vulnerable to extreme fever. The small size of a child means that it is more vulnerable to dehydration when unwell.


The immature nervous system of a child is more likely to be disturbed by fever or trauma, which can result in convulsions, confusion and loss of consciousness.


An immature digestive system is more likely to succumb to conditions such as colic, gastroenteritis and constipation.


Many of the common childhood cancers develop from the immature ‘blast’ cells, which are present in developing tissue in a small child. Blast cells are the rapidly dividing fetal progenitors of adult cells.


The physical, emotional and mental faculties of a child are immature. This means that they are more vulnerable to extremes of temperature, accidents, physical abuse (non-accidental injury), and emotional and sexual abuse.


Because of the vulnerability that comes from immaturity, the child requires special protection from any noxious factors that might have the potential to damage its health.



The child is in a process of rapid growth and development


Growth requires a constant supply of adequate nutrients. Nutritional deficiencies in childhood can lead to lasting health problems.


Physical growth and the development of physical, mental and emotional skills also require a complex input of less measurable factors, including love, security, consistency, play, exercise, rest, access to education and a supportive social network. If any of these factors is deficient, the physical, mental and emotional health of the child may suffer, again with long-term consequences.



Vulnerability to setbacks in growth and development


Any disturbance in health can affect growth and development. A child with a chronic childhood illness may suffer long-term consequences of impaired growth and development as a result of the illness. In particular, the impact of congenital disease can be very significant, as it can affect growth and development from the time of the birth of the child (see Q5.4a-2)image.


The health needs of children are those factors that enable a child to remain healthy in the face of its immaturity and state of growth and development. Meeting these health needs is all the more important if the child has been born with a constitutional deficiency resulting from congenital disease or prematurity, or if it should later develop a serious illness.


The special health needs of children include a balanced nutritious diet, protection from injury, toxins and extremes of climate, protection from infection, freedom to play and exercise, adequate rest, love, security, consistency of care and access to a social network, access to education and protection from physical, sexual or emotional abuse.


The importance of meeting these health needs at every stage in a child’s development cannot be overestimated. It is well recognised that if a child falls behind in growing and developing as might be expected, it is often very difficult for the child to catch up at a later date. Therefore, failure to meet these basic health needs during childhood can have an impact on long-term health and well-being, and so might compromise health in adult life.


The special health needs of children are considered below in detail.



A nutritious diet


A child needs an adequate supply of the basic nutrients in its diet to grow and develop healthily. The basic nutrients include protein, carbohydrate, fats, and a wide range of vitamins and minerals. All these nutrients are required to enable the tissues to form at the normal rate. If there are nutritional deficiencies, the child will fail to grow and to develop as would be expected.


Nutritional deficiency can cause problems in physical growth and development, such as the small stature and vulnerability to infection that results from protein-calorie deficiency. The high infant and childhood mortality from infection in developing countries is largely a consequence of protein-calorie deficiency. Those children who have had to subsist on too little food but who do survive to adulthood are likely to be smaller than average, and to continue to be prone to infection and problems of inadequate physical development, such as difficulties in childbirth.


It is now recognised that the long-term effects of nutritional deficiency begin in the womb. Babies who are assessed as less well nourished at the time of birth are more likely to develop a severe chronic illness such as coronary heart disease in later life.


The individual vitamins and minerals each play a role in the healthy development of the tissues. If there is a specific vitamin or mineral deficiency, this too can have a long-term bearing on health. For example, a deficiency of vitamin D in childhood can lead to the condition of rickets. Rickets leads to bony deformities, which are then set for life into the adult skeleton. Vitamin A deficiency leads to weak epithelial tissues and a vulnerability to infection, and is probably one of the most important reversible causes of infant mortality from measles in developing countries. Iron deficiency is now recognised to be common, not only in developing countries but also in the more affluent western nations, in which the food given to an infant may be plentiful, but unbalanced in nutrients. Inadequate iron in the diet of infants can have a lasting effect on mental development, leading to learning difficulties in later life.


Certain components of a child’s diet may be harmful if given to the child too early or if in excess. The World Health Organization recommends that all children should be exclusively breastfed for at least the first 4 months, and ideally for the first 6 months, of life. It is increasingly recognised that certain nutrients may be harmful to the immature digestive system of the baby. It is possible that the early introduction of wheat, cows’ milk, egg, nut and pulse proteins may induce long-term allergies or food intolerance. It is partly for this reason that late weaning after the sixth month is recommended, and advice is given that babies should avoid cows’ milk products if possible for the first year of life. Whole foods are not considered to be so healthy for young babies and children, who may suffer from colic and diarrhoea as a result of the excess dietary fibre.


An excess of fat and refined carbohydrate will lead to obesity in children. As well as affecting the ability to play and exercise, obesity in children can lead to a long-term reduction in health and well-being. Obese babies are known to be more likely to grow into obese and inactive adults. Obesity in childhood can lead to social exclusion and being bullied. Obesity is an increasing problem in children of affluent societies, and one that carries significant consequences to health in future life.



Protection from injury, toxins, extremes of climate


Many of the important health problems of childhood are preventable, as long as the child is given adequate physical protection. In affluent countries, childhood accidents, and in particular head injuries, are the single most important cause of death in those under 14 years old. Many of the accidents which are fatal might have been prevented by the appropriate use of car restraints, cycle helmets, smoke alarms and window locks.


Poisoning is another very common cause of illness and death in children. Contrary to popular belief, the most common poisons to cause harm in children are not wild berries and mushrooms, but those found in the home, such as alcohol, cleaning fluids and prescription medicines. Again, harm would be prevented if these substances were kept out of the reach of children.


A young child is very vulnerable to extremes of heat and cold, and also to radiation from the sun. It is now recognised that sudden infant death syndrome (SIDS) can result from allowing a baby to become overheated or too cold. Children are more likely than adults to suffer from fever, dehydration, headache and confusion in very hot weather, a condition described as ‘heat stroke’.


A child’s skin is vulnerable to burning with very little exposure to the sun’s rays. Although the discomfort of sunburn may be temporary, there is a well-established link between the incidence of sunburn in children and the development of skin cancer, including melanoma, in adult life. Sunburn is prevented by protecting the child’s skin from direct sunlight by means of wearing long sleeves, sun hats and high-factor, ultraviolet light-blocking sun creams.



Protection from infection


Children can be protected from the serious childhood infections by the time-honoured method of separating an infectious child from other children. This might mean ensuring that a child has a few days of convalescence at home during and after an illness. However, this practice is increasingly less prevalent, as the pressures on parents to return to work may oblige them to return their child to school sooner than would be advisable after an infectious illness. In such situations, medications such as paracetamol and ibuprofen are commonly used to enable a child to feel well enough to return to school. Of course these medications do not cure the underlying illness.


An important medical approach for managing the risk of infection is the practice of childhood vaccination. Children in the UK are currently offered immunisations to protect them against ten childhood infections. The timing of the vaccinations in the UK immunisation schedule is summarised in Table 2.4d-I.


However, vaccines are not currently available in the UK for many of the important childhood infections. These include chickenpox, scarlet fever, tonsillitis, most forms of bronchitis and pneumonia, most forms of meningitis, herpes simplex virus, gastroenteritis, conjunctivitis and impetigo. For all these infections, exclusion of the infected child is the most important aspect of the protection of other children.



Freedom to play and exercise


It is now recognised that a child needs to be in a stimulating environment from early babyhood. Psychological studies of babies in orphanages who were given little stimulation throughout the day indicate that the mental and physical development of these babies was delayed, despite the fact that the babies appeared contented and well nourished.


If given a safe degree of freedom and stimulating objects, a child will naturally play, and through play will gradually develop physical and mental skills. A child will also naturally want to exercise. This tendency is apparent even in the womb. The routine ultrasound scan performed at 20 weeks of gestation demonstrates a fetus that is flexing its limbs and performing ‘practice’ breathing movements. As well as helping to develop skills of balance and coordination, exercise stimulates muscle and bone development. It also aids the proper utilisation of food and prevents obesity.


It is clear that children in affluent societies exercise far less than their parents did, and even less than their grandparents did as children. The reasons for this are multiple, and include the increased use of the car to take children to school, a reduction in allocated time for physical activity in school curricula (many children in the UK are obliged to attend less than half an hour of physical education per week) and the almost universal availability of habit-forming and sedentary methods of entertainment such as television and computer games. The impact that this decline in physical activity in today’s children will have is likely to be significant. It is well recognised that children who do not exercise are even less likely to exercise when they become adults. The habit of exercise is apparently one that is most easily formed when young. Lack of activity in childhood will, therefore, contribute to problems such as heart disease, obesity and osteoporosis in adulthood.



Adequate rest


The value of adequate rest for children is emphasised in conventional guides to childcare. It is recognised that overstimulation and lack of sleep in a child will lead to poor concentration and irritability in the day. It is conventionally recognised that the development of a child can be adversely affected as a result of inadequate rest alone.



Love, security, consistency of care, and access to a social network


Although very difficult to measure, it is also well recognised that interpersonal factors, including love, a sense of security, consistency of care and access to a social network, are extremely important in the healthy mental, emotional and physical development of a child. Although it may make sense that the emotional development of a child deprived of one or more of these factors might be adversely affected, it may come as a surprise that mental and physical development can also be impaired by emotional deprivation. The effect of emotional deprivation can be so marked that the term ‘psychosocial dwarfism’ has been coined to describe the phenomenon of otherwise unexplained stunted growth in children in whom there is evidence of emotional deprivation. The only conventional explanation for this phenomenon is that, through the effect of emotional deprivation on the brain, the release of the hormones that stimulate growth and the development of the brain in children (including growth hormone, the thyroid hormones, insulin and, after puberty, the sex hormones) is inhibited.



Access to education


The definition of what constitutes appropriate education will vary according to the society in which the child grows up. At the very least, education should allow a child to develop skills and the confidence to be able to function as an independent adult in its society. At best, education should also enable a child to develop the skills to continue to learn and develop throughout adult life.


Theories abound about when is the best time to begin to acquire skills such as reading, playing the violin or driving a car. What is generally understood is that there is an optimum time period in the life of a child during which a skill, such as learning to read, can be acquired. Also, it is recognised that most children require a foundation of basic skills before they can progress on to learning more complex skills. For example, for most children reading will follow only after the skill of letter recognition has been mastered. A good educational system, whether it is at school or at home, will enable the child to concentrate on the skills that are most important to develop according to its particular stage in development. If the window of opportunity in childhood for learning a particular skill is missed, and reading is a good example, then it may be very difficult for the adult ever to acquire the skill with proficiency. A child may miss out on an important stage in educational development because of a long period of poor health, because of an unstable social setting or because of lack of parental support and encouragement.


Education has a significant impact on health. Not only can it enable the child to develop the skills and confidence to follow a healthy lifestyle as an adult, it also opens the door to a choice of professions. There is now no doubt that there is a strong correlation between professional status (by which the five socio-economic classes are defined) and health. For a wide range of diverse diseases, including most forms of cancer, heart disease, childhood asthma, pneumonia, and type 2 diabetes, there is a very striking correlation between the incidence of the disease and socio-economic class (of the child or parent). A person who is classified by profession into a high socio-economic class (e.g. a judge would be classified as Class I) is more likely to enjoy better health and a longer life than someone who is classified by profession to a low socio-economic class. This correlation cannot be completely attributed to differences in lifestyle between people from different socio-economic groups. So, it seems that, over and above the advantages an education might offer in terms of learning about healthy living, education (or possibly the wealth and security that tend to accompany it) also appears to protect against disease in its own right.



Protection from physical, sexual or emotional abuse


The deleterious effects that any form of abuse may have on a child are obvious. If the abuse is severe or occurs on a long-term basis, the child’s growth and development will be affected adversely, probably by a similar mechanism as results from emotional neglect.


Physical abuse is also termed ‘non-accidental injury’ (NAI). NAI may manifest as bruises, lacerations, cigarette burns or fractures. In some cases, NAI results in wounds or fractures which would be very unlikely to occur by accident (e.g. bruising within the pinna of the ear), and so should alert the examining doctor to the possibility of abuse. Rarely, a child may be deliberately poisoned by his or her parents with alcohol or prescription medicines. Munchausen syndrome by proxy is a very rare syndrome in which the parent or carer causes or feigns illness in the child as an indirect form of attention seeking.


Physical neglect is also a form of physical abuse, and may manifest in the child as failure to gain weight, inadequate hygiene with skin infections and infestations, poor speech development and failure to attend health check-ups.


Emotional abuse includes emotional neglect and withdrawal of love, but also malicious criticism, threats and scapegoating. The child may appear withdrawn and may have speech difficulties and other features of developmental delay.


Sexual abuse may result in the features of emotional abuse and also in precocious sexual awareness or behaviour in a young child. Both physical and sexual abuse may cause the child to become vigilant and still when close to adults, a response described as ‘frozen watchfulness’. A sexually abused child may present with the symptoms of a sexually transmitted disease, or may fall pregnant. There are some characteristic signs which may be found on examination of the genitalia of a sexually abused child, but the finding of these signs is not always conclusive.


Commonly, two or more of the forms of abuse may coexist. Apart from causing developmental delay, the long-term effects of child abuse on the individual’s future relationships and care of future children may be serious and very difficult to remedy. It is recognised that abused children are more likely to abuse others in adulthood. Children who have been victims of sexual abuse are at great risk of suffering from psychiatric disorders and sexual dysfunction in adulthood.


The concept that parents or carers might abuse their children was only really recognised in the 1950s. In recent years there has been an increased awareness that abuse may underlie the health problems of a child, and conventional health professionals are now given specific training in recognising the warning features of abuse in a child.


If there is good reason to suspect the abuse of a child, then a conventional health practitioner in the UK is expected to report the matter to the local area Child Protection Committee. The Child Protection Committee is under the auspices of the local Social Services Department. In the first instance, a decision has to be made about whether the child should be separated straight away from the suspected abuser, either by admission to hospital or by placing the child into the care of a foster parent or a children’s home. Whether or not this is done, a Child Protection Conference is convened, which will have multidisciplinary representation from a wide range of relevant professionals, including social workers, health visitors, the general practitioner, hospital doctors and nurses, police officers, teachers and lawyers. The evidence relevant to the case will be discussed and a decision will be made about:



• whether to place the child on the Child Protection Register, so that the child continues to remain at home while under the surveillance of health visitors and the social services


• whether to apply to the court for long-term protection of the child and prosecution of the possible abuser


• what sort of follow-up is required.


If, as a practitioner of complementary medicine, there are any concerns about possible abuse of a child, it is necessary to seek further advice. In the UK it would be appropriate to contact the local area Child Protection Committee. This is an example of a situation when it may be appropriate to breach the professional code of confidentiality.



image Information Box 5.4a-1 Children’s health: comments from a Chinese medicine perspective


In Chinese medicine, children are recognised to be energetically different in nature from adults, although of course the differences become gradually less marked as the child grows older. Scott and Barlow (1999) summarise the principal differences as follows:


‘Children’s spleen is often insufficient’


This refers to the fact that the digestive system of a child has to work full time to ensure adequate growth and health of the Organs. For this reason, a young child is particularly vulnerable to digestive disorders. Late weaning and a balanced and regular diet consisting largely of Warm foods are extremely important for the health of the child. Accumulation Disorder (akin to the adult syndrome Retention of Food in the Stomach) and Spleen Qi Deficiency are syndromes very commonly found in young children.


‘Children’s yin is often insufficient’


Although the nature of children is very Yang, the Yin is immature. This can result in the tendency to high fevers and dehydration that are characteristic of children. Scott and Barlow (1999) suggest that the reason why Yin Deficiency is not seen more often in western children is that their Heat symptoms have been treated too readily with antibiotics, which are by nature cooling and damaging to the Yang.


‘Organs are fragile and soft; Qi easily leaves its path’ and ‘Children easily become ill: their illnesses easily become serious’


These statements both refer to the fact that a slight insult from a Pathogenic Factor (such as the Heat of a hot day, or Damp Heat from over-rich food) can easily disturb the Qi and so cause illness. This can easily progress to a disturbance of the Qi of the whole body, and so lead rapidly to serious illness. Likewise, emotional disturbances can also lead to health imbalances, which can escalate into serious conditions.


‘Yin and Yang organs are clear and spirited. They easily and quickly regain their health’


As a counterpoint to the preceding maxims, despite the vulnerability that arises from immaturity of the organs, the clarity of the ‘Spirit’ of the child’s organs means that, in many cases, a child can return very rapidly to good health even after a major illness. Also, emotional disturbance in a child is often very short-lived, as long as the stress that has caused the disturbance is not maintained for a long time.


‘Liver often has illness’


This statement refers to the tendency of children to succumb to Liver Wind and so to suffer from convulsions. However, health problems that result from Stagnation of Liver Qi are not so prominent in children, presumably because small children in general have not learned the tendency to restrain their emotions.


‘Treat the mother to treat the child’


Health and emotional imbalances in the mother may readily be transmitted to the child, and so treatment of the mother may be important in the management of a child health problem. Conversely, a mother may become unwell in response to the health problem of her child, and her condition may only get better when the health of the child starts to improve.


This is only a brief summary of the essential points about children’s health from the Chinese medical perspective. For more detail see Scott and Barlow (1999).



Summary


How these general principles apply to particular health problems in children is explored in more detail in the rest of this section.



image Self-test 5.4a Introduction to children’s health




1. Give a brief explanation of why a child may be more susceptible than a young adult to the following conditions:


(i) diarrhoea and vomiting

(ii) peanut allergy

(iii) a febrile convulsion (a fit resulting from high fever)

(iv) certain forms of leukaemia

(v) fractures.

2. You are examining a 9-year-old child who is obviously small for his age and slight in build. His mother explains that he is not very able in either sporting activity or academic work compared with his peers at school. What sort of factors might have contributed to a delay of physical and mental development such as is apparent in this child?


3. Name the three types of abuse that can be inflicted on a child. What are the important approaches used nowadays in the management of a case of suspected abuse in a child?



Answers




1.


(i) A child is more susceptible to diarrhoea and vomiting partly because of an immature digestive and immune system, and partly because a child may be more vulnerable to ingesting contaminated material if not adequately overseen.

(ii) A child may be more likely to develop a peanut allergy as a result of exposure to peanut antigens at a time when the immune system is immature.

(iii) A child is more likely to have a febrile convulsion because of the immature response of the nervous system to fever.

(iv) A child is more vulnerable to certain forms of leukaemia because childhood leukaemia develops from the immature blast cells that persist in children from the time of fetal development.

(v) A child is more vulnerable to fractures largely because of emotional and mental immaturity. A child is more likely to put itself in dangerous situations without full awareness of possible harmful consequences. A child is also less able to protect itself from physical abuse from other children or adults.

2. A delay in physical and mental development may be a result of deficiency in any one of the fundamental health needs of a child. Possible causes include:


• inadequate diet, including vitamin/mineral deficiency

• congenital disease (e.g. congenital heart disease, cystic fibrosis, haemophilia, Down syndrome)

• acquired chronic illness (e.g. asthma, diabetes mellitus, childhood cancer)

• deficiency in those factors that are important for the emotional development of the child, including love, security and consistency of care

• sustained physical, emotional or sexual abuse.

3. The three types of abuse that can be inflicted on a child are physical, emotional and sexual abuse. Commonly two or more of these coexist in a case of child abuse.


The first step in managing a case of suspected child abuse is that the professional concerned should report the matter to the local area Child Protection Committee. An immediate decision is then made about whether or not the child is in grave risk of continuing abuse. If there are good grounds to believe that this is the case, the child may be removed straight away to a place of safety, such as a foster home.


A Child Protection Conference is convened, which makes the decision about whether or not the child should be placed on the Child Protection Register. The case of a child on the Child Protection Register will be subject to regular review by the range of professionals involved in the care of the child. The family of a child on the register should be offered continuing guidance and support in their care of the child.


Serious cases may result in an application to the court for long-term protection of the child and/or prosecution of the abuser.



Chapter 5.4b Assessment of child health and development



Learning points



At the end of this chapter you will be able to:


• explain why the assessment of child health and development is different from the assessment of health in adults

• give a definition of the term ‘developmental milestone’

• recognise some of the key developmental milestones used in the assessment of child development.

Estimated time for chapter: 90 minutes.



Why does the assessment of the health of children require a specialised approach?


The assessment of the health and development of children is different from the assessment in adults, in as much as the physiology of children is different from that of adults. It should be obvious that the health of a child can only be assessed properly if there is a prior knowledge of the normal range of physiological variables in a child at that particular stage of development. Therefore, most of this chapter is concerned with what the complementary therapist can expect to be normal when examining a child at a particular age (stage of development).


Even without a specialised knowledge of how diseases manifest in children, a firm grasp of the normal physiology of childhood development will enable a more ready recognition of those situations when a child is becoming unwell.


This chapter introduces the main differences between normal children at various stages of development and adults. For the sake of clarity, the differences that might be found in the physical examination of a passive child are considered first. Then, the ways in which a child differs from an adult in terms of its interaction with its environment are discussed. These are considered within four domains: motor (movement) skills, language skills, hearing and vision, and social skills.



The child health surveillance programme


The health of a child will always be assessed when the child presents to a conventional practitioner with a particular complaint. In addition to these unpredictable points of contact with health practitioners, most children in developed countries are also offered health checks at prescribed stages in their childhood. Considered together, these health checks comprise a programme of child health surveillance.


In the UK Child Health Surveillance Programme health checks are usually offered at birth, at 6–8 weeks, 9 months and 18–24 months of age. The professionals who work together to provide a child health surveillance programme include the hospital paediatrician, the general practitioner and the health visitor (a nurse with specialist training in community health issues). For most healthy children, the only point of contact with the hospital paediatrician is likely to be during the routine neonatal examination, which should take place within the first 24 hours after birth in hospital. Thereafter, the health surveillance is overseen by the general practitioner and the health visitor. However, if a child has a serious congenital condition or chronic severe illness, the hospital or community paediatrician will be much more involved in the health surveillance programme for that child (see Q5.4b-1)image.


During these routine health checks important aspects (indicators) of the physical health of the child are assessed, together with certain indicators of the four domains of how the child is interacting with its environment. These four domains are motor skills, language skills, hearing and vision, and social skills.



Developmental milestones


Assessment of the domains of physical health, motor skills, language skills, hearing and vision, and social skills requires an understanding of how a healthy child might be expected to develop within each of these different domains as time goes on. A useful concept in the assessment of children’s health over the course of time is that of the ‘developmental milestone’.


A developmental milestone is a measurable attribute or skill that is attained during the course of normal development in childhood. The first smile of a baby and the ability to reach out and grasp an object, to sit unaided, to walk and to say single words with meaning are all developmental milestones that are usually attained within the first 2 years of life.


All children are unique with regard to the precise time and order in which these milestones are attained. For example, a normal healthy child might first walk unaided at any time between 7 and 15 months of age. The age by which half of all children have taken a few steps is 12 months. This is the median age for the milestone. Outside the extremes of 7 and 15 months there may be unusually early or late walkers who nevertheless continue to develop normally. There is no known link between early walking and physical prowess, despite parents’ assumptions to the contrary. However, if a child is not walking by the age of 18 months, there is a significant possibility that this is an early indication of abnormality such as muscular dystrophy. Eighteen months is described as the ‘limit age’ for the developmental milestone of walking unaided. If a child has not achieved a milestone by the limit age for that milestone, it will be referred for specialist examination to exclude any possible underlying health problems. Median ages and limit ages for some of the important developmental milestones are listed in Table 5.4b-I.


Table 5.4b-I Median and limit ages for some developmental milestones































Developmental milestone Median age Limit age
Responsive smiling 6 weeks 8 weeks
Good eye contact maintained 6 weeks 3 months
Reaches for objects 3–4 months 5 months
Sits unsupported 6 months 10 months
Says single words with meaning 13 months 18 months
Speaks in phrases 24 months 30 months


Physical assessment of the passive child



Height, weight and head circumference


Height, weight and head circumference are measurements that are very commonly used in the assessment of the health of children. In young babies, head circumference and weight are the most frequently assessed health indicators, whereas in older children who are able to stand upright the assessment of height replaces that of head circumference.


The concept of the ‘normal range’ was introduced in Chapter 1.2a, and by way of illustration Figure 1.2a-I shows the normal range of birthweight according to stage of pregnancy. The normal range for a variable, such as weight, is the range of values of that variable into which the large part (usually 80% or 96% for most normal ranges) of the population will fall. When the height, weight or head circumference of a child is measured, the value is compared to charted values which indicate the normal range of that variable in the British population. The charts used by health professionals are prepared with such accuracy that the precise ‘position’ of the child in terms of the variable as compared to the population as a whole can be determined.


For example, a 4-year-old boy may be assessed as having a height that is on the 25th centile. This means that he just falls within the shortest quarter (25%) of the population. At the same assessment, his weight is found to be on the 33rd centile (meaning that he just falls within the lightest one-third (33%) of the population). Both these measurements are within the 94% normal range and so would be considered unremarkable by a health professional. However, if the two measurements indicated that the child was on the 2nd centile for height and weight, this would mean that he is just on the bottom edge of the 94% normal range and just falls within the shortest and lightest 2% of the population. A health professional might then take more time to assess whether or not there might be an underlying health or social issue as a cause of the short stature in that child (see Q5.4b-2)image.


Monitoring variables such as height and weight relative to the normal range over the course of time can be very useful. If a child is seen to ‘drop in centiles’ from, say, the 40th centile to the 10th centile over the course of time, this might indicate failing health. In this way a possible problem with growth can be detected long before the child can be assessed as falling outside the normal range of growth indicators (see Q5.4b-3)image.


However, problems can arise from repeated measurement of height, weight and head circumference. As is true for all measurements that fall outside a ‘normal range’, there remains uncertainty whether the measured ‘abnormality’ is a valid indicator of lack of health. Many health visitors will testify to the anxiety that repeated weighing of a small baby can induce. It is understandable that a mother will be concerned if her baby is assessed as not gaining weight at the same rate as an average baby (as indicated by the weight chart). Even if this is actually a healthy pattern for that child (who of course is very unlikely to be an average baby in all respects), the concern may lead to lack of well-being in the mother (which can then be transmitted to the child) or to changes in feeding behaviour, such as stopping breastfeeding in favour of formula milk.


For this reason it is important to place an ‘abnormal’ measured value in context against other measures of health in the child. A contented baby who is well in all other respects is unlikely to have a serious underlying health problem, even if its weight dips below the normal range. Although an abnormal finding must of course be followed up, every effort should be made to reassure the mother that it need not necessarily indicate that anything is wrong with the child.



Pulse rate


The pulse rate drops gradually over the first few years of life to assume the normal adult rate after the age of 12 years. The normal ranges for pulse rate in children are given in Table 5.4b-II.


Table 5.4b-II The normal ranges for pulse rate in children


















Age (years) Rate (beats/minute)
<1 110–160
2–5 95–140
5–12 80–120
>12 60–100


Respiratory rate and peak flow rate


Like the pulse rate, the respiratory rate drops as the child gets older. The normal ranges for respiratory rate in children are given in Table 5.4b-III.


Table 5.4b-III The normal ranges for respiratory rate in children























Age Normal rate (breaths/minute) Rate if breathless (breaths/minute)
Newborn 30–50 >60
Infant 20–40 >50
Young child 20–30 >40
Older child–adult 15–20 >30

The peak flow rate is proportional to the height and age of the child, meaning that it increases as the child gets taller and older. The normal range for peak flow rate in children can be determined from charts such as those which usually accompany a peak flow meter when purchased.



Heart sounds


The heart sounds of children are routinely assessed in surveillance checks to exclude the possibility of congenital heart disease. When using the stethoscope, the doctor listens for the rushing noise of a heart murmur. A murmur can be a normal finding in very young children, but is unlikely to be normal if found in school-aged children. If there is any concern, the child will be sent for a non-invasive echocardiogram to exclude defects in the structure of the heart.



Mouth, palate and anus


The mouth and palate of the newborn baby are assessed at the neonatal check to exclude hare lip and cleft palate. The anus is examined to exclude the rare condition of imperforate anus.



Abdomen and testes


The abdomen and testes are examined in newborns and children up to the pre-school years. The doctor examines the abdomen of newborns to exclude abdominal distension, enlarged liver or spleen, and abdominal masses. In this way conditions such as congenital bowel obstruction and abdominal tumours may be detected. The scrotum is palpated in boys up to the pre-school years to check for complete descent of the testes.



Hips


The movements of the hips of newborns and babies up to the age of 2 years are also routinely assessed to exclude the condition of congenital dislocation of the hip.



The skin


Benign birthmarks are common findings in newborn babies. In particular, reddened mottled patches at the nape of the neck or around the eyelids (stork marks), bluish areas of discoloration over the base of the spine and buttocks (Mongolian blue spots) and tiny white pimples on the cheeks and nose (milia) are findings that will resolve spontaneously.


The port-wine stain (a clearly demarcated, purplish patch on the face or scalp) and the strawberry naevus (a bright red, rounded lump, often the size of a strawberry) are two fairly common birthmarks that are more persistent. The port wine stain can be very prominent on the face of a growing child, but can now be treated in later childhood by means of laser therapy. The strawberry naevus tends to increase in size for the first few months of life and then often shrinks down to a negligible size. For this reason treatment is not offered unless it is a cause of physical discomfort in early infancy. Cosmetic surgery can be offered if the naevus is unsightly by the time the child reaches school age.


Tufts of hair, skin lumps or other birthmarks are taken seriously if they are found around the base of the spine, over the spine or on the skull. Rarely, birthmarks in these regions can indicate a mild form of spina bifida known as ‘spina bifida occulta’.



General appearance


Finally, in the physical assessment of a passive child, the overall physical appearance of the child may indicate to a trained eye that there is an underlying congenital condition or chronic illness. Many of the genetic conditions that manifest in childhood give rise to a characteristic cluster of physical features, which in themselves are diagnostic of the condition, for example Down syndrome and achondroplastic dwarfism.



Assessment of movement (motor skills) in a child


A newborn baby should be able to make symmetrical strong movements of all four limbs when lying on its back. If supported by a hand under the abdomen it will be unable to hold up its head, but will not be too floppy (i.e. it has good muscle tone). It has a strong grip, so much so that it can support its own weight when gripping the index fingers of the examining doctor. When held upright as if standing, a newborn will make reflex stepping moves with its legs. Within 6–8 weeks the strong grip and walking reflex are no longer to be found. This is because the strong grip and walking reflex of the newborn are primitive reflexes, which later become overridden by motor nerve impulses from the developing brain.


Some of the major motor developmental milestones are listed in Table 5.4b-IV.


Table 5.4b-IV Some of the major motor developmental milestones










































Milestone Median age
Able to lift head when lying on abdomen 6 weeks
Sits without support 6 months
Can pass objects from one hand to another 6 months
Stands with support 7 months
Pulls to standing 9 months
Has good pincer grip of a small object 10 months
First steps unsupported 12 months
Scribbles with a pencil 14 months
Kicks a ball 20 months
Builds a tower of six cubes 24 months
Hops on one foot 3½ years
Draws a man of three parts 4 years


Assessment of language skills in a child


A newborn of course has no language, but has a characteristic cry, which is a very effective, albeit not very specific, method of achieving contact with its mother. Within the first few months the baby is able to recognise and quieten to his mother’s voice. Some of the major developmental milestones of language are listed in Table 5.4b-V.


Table 5.4b-V Some of the major developmental milestones of language
























Milestone Median age
Babbles and says ‘mama’, ‘dada’, ‘baba’, but without meaning 10 months
Can understand simple commands and say one or two words appropriately 13 months
Can combine two different words 20 months
Can say first and last name 3–4 years
Can say the name of colours 3 years
Speech fully comprehensible to strangers 4 years

Speech difficulties may arise as a result of a range of reasons. The problem may be seated in difficulties in understanding speech (receptive dysphasia), either because of deafness, a global learning disability, or a specific defect in the way in which the brain processes speech. Alternatively, the actual production of words may be impaired (expressive dysphasia), despite good comprehension. For this reason, the assessment of the root of problems in language development is a complex skill.



Assessment of hearing and vision in a child


A newborn should respond to sound, and will startle or blink in response to sudden noises. It will not show any preference at this stage to particular sounds, such as its mother’s voice.


The eyes of a newborn are examined to exclude conditions that are the cause of blindness, including congenital cataract and a rare congenital tumour called ‘retinoblastoma’.


As the baby grows, the mother is questioned about whether or not she thinks her child reacts normally to sounds and visual images. The mother’s opinion is usually an extremely sensitive indicator of whether or not there could be underlying hearing or visual defects.


Hearing is assessed in the newborn by means of objective electronic testing of the inner ear or brain to sounds focused into the baby’s ear. This reliable test has in the UK largely replaced routine assessment by the distraction test, which until recently was performed by the health visitor on a baby aged 6–9 months.


By 6–8 weeks of age the eyes of the baby should be moving together (conjugate gaze), with no evidence of independent movement (squint). At every stage in the Child Health Surveillance Programme the child should be assessed informally for the presence of a squint. If there is any concern about one eye not moving as far as it should in any direction, the child is referred for a formal diagnosis by an ophthalmologist, as squint requires early treatment to prevent lifelong impairment to binocular vision.


Some of the major developmental milestones of hearing and vision are listed in Table 5.4b-VI.


Table 5.4b-VI Some of the major developmental milestones of hearing and vision

































Milestone Median age
Startles to a sudden noise At birth
Looks at faces; responds to light At birth
Stills to a sudden new noise 1 month
Eyes will follow a moving object, and will move together with no squint 6 weeks
Quietens or smiles to the mother’s voice 4 months
Turns to the sound of mother’s voice 7 months
Searches for quiet sounds made out of sight 9 months
Shows response to his own name and some other familiar words 12 months
Can copy a circle 3 years


Assessment of social skills in a child


The developing child will display increasingly complex methods of interacting with the people around it, and behaving according to expected norms. Even a newborn appears to respond to being picked up in a way that is different to its response to less social stimuli.


The assessment of the social skills domain includes the assessment of those skills, such as self-feeding and self-dressing, which are essential for the child to attain independent existence.


Some of the major milestones in social development are listed in Table 5.4b-VII.


Table 5.4b-VII Some of the major milestones in social development













































Milestone Median age
Smiles responsively 6 weeks
Can put solid food in mouth 6 months
Waves ‘bye-bye’ 8 months
Becomes wary of strangers 8–10 months
Drinks from a cup 12 months
Shows symbolic play with dolls, chair spoon, etc. 18 months
Can remove a garment 18 months
Feeds self with a spoon 18 months
Asserts own wishes 18 months
Washes hands and brushes teeth with help 3–4 years
Shows sympathy when appropriate 3–4 years
Vivid make-believe play 3–4 years
Will play independently with other children 3–4 years


What happens when a child fails to reach developmental norms?


In general, the failure to fit into the ‘normal range’ for a physical measurement such as weight or pulse rate, or the failure to have attained a developmental milestone by its limit age should be put into the context of the overall well-being of the child. If the child is otherwise well, then as has been explained regarding weight gain in babies, the mother primarily should be reassured that it is very possible that there is not an underlying health problem. Nevertheless, it is generally good practice to follow-up a child who fails an aspect of the Child Health Surveillance Programme with further tests or a referral for a specialist opinion.



image Self-test 5.4b Assessment of the health and development of children




1.


(i) What is a developmental milestone?

(ii) Explain the terms ‘median age’ and ‘limit age’.

(iii) What is the median age and limit age for sitting unsupported?

2. You are examining a 3-year-old boy. Which of the following features might be a cause for concern to a health professional examining the same child for the first time?


• weight on the 50th centile

• height on the 98th centile

• pulse rate of 104 beats/minute

• respiratory rate of 30 breaths/minute

• he can say his first name but not his surname

• his speech is unclear but he is able to say complete sentences

• he can run but not hop.

3. A patient tells you that her small baby of 3 months has a heart murmur, but that the doctor is not sending it for any tests at the moment. She is obviously concerned about this. When you examine the child you find that the pulse rate is 130 beats/minute and the respiratory rate is 30 breaths/minute. The baby is alert, smiling in response to her mother’s voice, but is unable to sit unsupported. How might you comment to the mother about the diagnosis of the murmur?



Answers




1.


(i) A developmental milestone is a measurable skill or attribute that is attained throughout the normal course of childhood development.

(ii) The median age is the age when 50% of all children will have attained the milestone.
The limit age is the age at which most children would have been expected to attain the milestone. If the milestone has not been attained by a child by the limit age, the child should be referred to exclude an underlying health problem.

(iii) The median age for sitting unsupported is 6 months; the limit age is 10 months. This means that half of all children are sitting by the age of 6 months. There is only cause for concern if the child is unable to sit unsupported by 10 months, in which case a referral might be made to exclude an underlying neurological or musculoskeletal problem.

2. Actually all these features are within or just within a range that would be considered normal. The only concern is the height of the child and the weight relative to that height. A height on the 98th centile indicates that the child just qualifies as being one of the tallest 2% of children of his age. This means that he is tall, but is only bordering on what would be considered abnormal. However, such a tall child would be expected to have a correspondingly high weight relative to the average child. Therefore a weight on the 50th centile suggests that this child is relatively underweight.


3. You could say to the mother that a heart murmur can be a normal finding in small babies, and would only be of concern if it persisted past infancy. You could add that her child otherwise appears very healthy in other respects; in particular her pulse and breathing rates are normal.



Chapter 5.4c Congenital disorders



Learning points



At the end of this chapter you will be able to:


• describe the different mechanisms by which chromosomal abnormalities, single-gene mutations and multifactorial inheritance can give rise to congenital disease

• recognise the main features of the most important congenital conditions

• describe the ways in which a preterm baby might suffer from disease

• describe the role of the clinical geneticist.

Estimated time for chapter: Part I, 70 minutes; Part II, 60 minutes; Part III, 30 minutes.



Introduction to congenital disease


Congenital diseases are those conditions which have existed in the person since birth. There are two broad categories of congenital diseases: genetic diseases and diseases of multifactorial inheritance. Genetic diseases are those diseases that result entirely from a defect in the genetic make-up of the person. In genetic conditions, the defect has either been inherited from the parent or has arisen during the division and maturation of one or both of the gametes. The genetic condition, therefore, is usually present from the moment of conception, and so will affect the genetic material of every body cell of the child with the condition. The genetic diseases can be diagnosed by testing a sample of body cells for the genetic defect. Very rarely, the genetic defect can arise as a result of an error in the early divisions of the zygote, and so will affect many, but not all, of the cells of the developing baby (this is genetic ‘mosaicism’; see later in this chapter). The genetic diseases can be further divided into two subcategories: those that result from chromosomal abnormalities and those that result from single-gene defects.


In contrast to the genetic diseases, there is a broad range of congenital conditions which are described in this chapter as being of multifactorial inheritance. These conditions may have an underlying genetic susceptibility at their root, but can also result from a range of external factors which have in some way damaged the embryo or fetus during the time of its development in the womb, or during the time of labour. In these conditions, the genetic material in the cells of the body will appear to be grossly normal, and genetic testing is not usually helpful in the diagnosis of the condition, except in that it may reveal an underlying susceptibility to the condition in some cases.


The most common congenital disorders are described in this chapter. It is beyond the scope of the text to go into detail about the features and management of all these conditions, largely because most of them are rare. The aim of this chapter is to illustrate the breadth of the range of congenital conditions, and the complex ways in which they can arise.


The problems that arise from prematurity are also described in this chapter. Although a preterm baby may be entirely healthy for its stage of development, the fact that it has been born before the ideal time for delivery means that it inherits at birth a number of particular health problems which, according to the definition above, are in themselves a form of congenital disease.


This chapter is divided into three parts, which you are advised to study in separate sessions. The conditions discussed in this chapter are:



Part I: Genetic conditions


• Chromosomal abnormalities:


– Down syndrome

– Turner syndrome

– Klinefelter syndrome

– fragile X syndrome.

• Single-gene defects:


– cystic fibrosis

– sickle cell disease and thalassaemia

– phenylketonuria

– albinism

– colour blindness

– muscular dystrophy

– haemophilia

– achondroplasia

– osteogenesis imperfecta

– hypercholesterolaemia.

Part II: Conditions of multifactorial inheritance


• congenital heart disease


• hare lip and cleft palate


• oesophageal atresia


• pyloric stenosis


• congenital liver disease


• imperforate anus


• club foot (talipes)


• congenital dislocation of the hip


• maldescent of testes


• congenital hernia


• congenital blindness


• congenital deafness


• neural tube defects


• cerebral palsy


• congenital hypothyroidism


• inherited tendency to adult diseases.


Part III: The premature baby


• respiratory distress syndrome


• irregularities of breathing and heart rate


• temperature control


• problems with nutrition


• retinal damage


• brain damage


• jaundice


• problems after discharge from hospital.


These three parts are followed by a section on screening for congenital disease, which covers the following:



• the role of genetic counselling


• genetic screening of parents


• antenatal testing for genetic disease


• presymptomatic testing of children.



Part I: Genetic conditions



Chromosomal abnormalities


The genetic material in the human is found within the nucleus of almost all the cells of the body (the red cells and platelets are exceptions to this rule, as they lose their nucleus at a late stage in their development in the bone marrow). During the process of replication of body cells, known as ‘mitosis’, the nuclear material condenses into 23 pairs of elongated bodies known as ‘chromosomes’. There are a total of 22 non-sex chromosomes (autosomes) and one pair of sex chromosomes (XX or XY), which make up the total complement of the non-dividing cell. The autosomes are described by a number, from 1 to 22, and the sex chromosomes by the letters X and Y. Each chromosome consists of coiled and densely packed strands of DNA (deoxyribonucleic acid). Each DNA strand is made up of chains of separate genes, which are tiny sections of DNA that direct the formation of the millions of proteins that make up the human body. Together, these strands of DNA make up what is now termed the ‘human genome’.


The different genes that make up the human genome have now been mapped, and can be located to particular chromosome pairs. The function of many of these genes is now understood. For example, the gene that codes for part of the protein that forms haemoglobin is located on chromosome pair 11, and the gene that codes for the clotting factor that is deficient in haemophilia A is located on the X sex chromosome. As the chromosomes are in matching pairs, each gene is doubly represented within the nucleus.


A chromosomal abnormality is a structural problem affecting one (or more) of these 23 pairs of strands of DNA. Because a chromosomal abnormality is likely to affect a large number of the thousands of genes represented on the DNA of the chromosome, the diseases that result commonly involve multiple structural abnormalities and learning difficulties. Over 100 diseases arising from chromosomal defects have now been documented.


A chromosomal defect usually arises as a result of an error in meiosis, the process by which gametes are formed from the germ cells in the ovary or testis. In this case, the chromosomes of the parents are normal. More rarely, the defect is present in the chromosomes of one of the parents, albeit not in a form that would manifest in severe disease. In this more rare circumstance, the defect can be passed down directly to the child, and occasionally in a form that results in severe abnormalities of development of that child. In both cases the chromosomal defect may be in the form of an absent chromosome or an absent section of a chromosome (a deletion), or may involve the presence of an extra chromosome (a trisomy).


Rarely, a chromosomal defect develops after conception, during one of the first mitotic divisions of the zygote. This results in a baby who has some normal cells and some cells that carry the defect. This phenomenon is known as ‘mosaicism’, and often results in a condition that is a less severe form of the disease that would have arisen if all the cells had been affected.


Because chromosomal defects are often apparent simply from a study of the shape of the chromosomes (which can be seen using a simple microscope), these were the first form of genetic disease to be understood and described as such. The first three chromosomal abnormalities to be described included Down syndrome. The chromosomal defect of Down syndrome (trisomy 21) was first described in 1959, only 3 years after the normal chromosomal complement was first described.



Down syndrome (trisomy 21)


Down syndrome was first described by Dr JLH Down in 1866, but was ascribed to a chromosomal defect just less than a century later. The syndrome arises as a result of a trisomy in the chromosome pair known as 21. In 94% of cases, Down syndrome arises from an error in meiosis, and in 9 out of 10 of these cases the error has affected the ovum rather than the spermatozoon. It is well recognised that this form of Down syndrome is more likely to arise with increasing maternal age (Table 5.4c-I). As will be appreciate from the table, the risk of having an affected pregnancy rises sharply after the age of 35 years, but nevertheless is a relatively unlikely occurrence (affecting less than 1 in 100 pregnancies) in women who are under 40 years old.


Table 5.4c-I Risk of Down syndrome according to maternal age at delivery
























Maternal age (years) Risk of Down syndrome occurring at birth
All ages 1 in 650 births
30 1 in 900 births
35 1 in 380 births
37 1 in 240 births
40 1 in 110 births
44 1 in 37 births

In a small number of cases of Down syndrome the condition arises from a defect known as a ‘translocation’ in the genetic material of one of the parents. If this is the case, there is risk of recurrence of the condition in a subsequent pregnancy of up to 15%.


In 1 in 100 cases of Down syndrome, mosaicism (see above) is found. This often manifests in a less severe form of the condition.


Down syndrome is the most common cause of severe learning difficulties, arising in 1 in 650 live births (see Table 5.4c-I). It is usually diagnosed at birth because of the characteristic cluster of physical features, which are apparent on examination of the newborn. These include a round ‘mongoloid’ face and a protruding tongue (Figure 5.4c-I), and abnormal creases on the palms and soles. The diagnosis is confirmed by means of chromosomal analysis (requiring a blood test). This test takes several days to process. At a later stage the parents will be offered genetic testing to exclude the rare possibility of a translocation.


image

Figure 5.4c-I • Characteristic features of Down syndrome.


In addition to the external features found on neonatal examination, a baby with Down syndrome is likely to have floppy muscle tone. As the child grows, a delay in the attainment of the motor developmental milestones is likely. In addition, 40% of babies with Down syndrome have some form of congenital heart defect, often requiring surgery in infancy. Other problems that are likely to affect the child with Down syndrome include severe learning difficulties (in which difficulties in problem-solving are most prominent), a tendency to recurrent respiratory infections, glue ear and visual impairment from cataracts or squints. In later life, a person with Down syndrome is at increased risk of developing leukaemia, hypothyroidism and Alzheimer’s disease.


Despite the cluster of physical and mental problems and the tendency to serious disease in middle age, a child with Down syndrome is often robust in general health and buoyant and sensitive in spirit.



image Information Box 5.4c-I Down syndrome: comments from a Chinese medicine perspective


In Chinese medicine, the underlying problem in Down syndrome is Jing Deficiency. The frequency of heart defects is an indication of a specific imbalance in the Heart Organ. This would accord with the observation that a joyful, open and warm nature is very often found in a person with Down syndrome.


A protruding tongue, and a tendency to infections and glue ear indicate that Phlegm Damp is an Excess problem in this condition. Scott and Barlow (1999) report that often the features of Phlegm Damp (including the difficulties in learning) respond very well to acupuncture given at frequent intervals before the age of 3 years, and having been cleared, may then reveal underlying Full Heat.



Turner syndrome (45 X)


Turner syndrome is a condition in which there is only a single X sex chromosome. This means that there are only 22 complete pairs of chromosomes. Babies born with Turner syndrome are always girls, as it is the Y chromosome which directs the development of the male sexual characteristics in the fetus.


It has been estimated that 95% of embryos with Turner syndrome do not survive past 8 weeks. Nevertheless, Turner syndrome is a relatively common chromosomal disorder, affecting approximately 1 in 2500 live-born baby girls. The features of the syndrome include short stature, a webbed appearance to the neck, widely spaced nipples and failure in the development of the ovaries. Intellectual development is normal. Occasionally, a congenital heart defect, coarctation of the aorta, is present. This may require surgical correction.


Diagnosis of Turner syndrome may be missed in the baby, and may only be made when it becomes apparent that the child is very short for her age, or at the time when it becomes obvious that her periods have failed to commence.


Treatment is with growth hormone (GH) therapy in childhood if short stature is a significant problem, and hormone replacement therapy (HRT) from puberty onwards. HRT, will not reverse the problem of infertility, but will enable the development of the secondary sexual characteristics, and will aid in the maturation and strengthening of the bones.



image Information Box 5.4c-II Turner syndrome: comments from a Chinese medicine perspective


In Chinese medicine, the underlying imbalance in Turner syndrome is Jing Deficiency.



Klinefelter syndrome (47XXY)


Klinefelter syndrome is the result of a trisomy in the sex chromosomes, involving the presence of an extra X chromosome (XXY). As with Turner syndrome, the abnormal complement of sex chromosomes leads to abnormalities of sexual development.


Klinefelter syndrome affects 1 in 1000 live-born males. The features of the syndrome include underdeveloped small testes, infertility, breast development in adolescence (gynaecomastia), and tall stature. Intellectual development may be normal, but there is a higher than average incidence of educational and psychological problems in boys with Klinefelter syndrome.


The main treatment is with male sex hormones in puberty, although these are used with caution in individuals who manifest behavioural problems.



image Information Box 5.4c-III Klinefelter syndrome: comments from a Chinese medicine perspective


In Chinese medicine, Klinefelter syndrome is a result of Jing Deficiency. The sexual and behavioural problems may indicate an additional imbalance in the Liver Organ.



Fragile X syndrome


Fragile X syndrome is the result of a multiplication of a small portion of the DNA in the long arm of the X chromosome. In girls, this defect can be ‘balanced out’ by the healthy chromosome in the pair of sex chromosomes (although the defect may give rise to mild learning difficulties in one-third of girls who carry it). However, in boys there is no additional X chromosome to perform this function. For this reason, fragile X syndrome primarily manifests in boys. The main features of fragile X syndrome are learning difficulty, large forehead, long face and protruding ears, and large testes (Figure 5.4c-II).


image

Figure 5.4c-II • Characteristic features of fragile X syndrome.

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Oct 3, 2016 | Posted by in MANUAL THERAPIST | Comments Off on Children’s health

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