Disturbances in movement, posture or growth in infancy and childhood

Chapter 2 Disturbances in movement, posture or growth in infancy and childhood



Case 2.1



1. What disorders does this test screen for?

Cystic fibrosis, phenylketonuria, galactosaemia, congenital hypothyroidism, fatty acid oxygenation defects (FAOD), amino acid metabolism disorders, lysosomal storage diseases.


2. You are told by the parents that the disorder is a hereditary one which involves exocrine glands. What disorder does the child have?

Cystic fibrosis.


3. How is the disorder transmitted from one generation to another?

It is an autosomal recessive disorder, meaning that both parents must carry the defective gene in order to transmit it to one of their offspring.


4. What is the incidence of this disorder? What is the current mean age of death?

Incidence varies internationally. It is most common in Caucasians (approximately 1 in 3000 births), and rarest in Asians (approximately 1 in 90 000 births). Mean age of death is currently 36.9 years.[1]


5. Describe briefly the pathological changes that occur in this disorder on the structure and function of the following body systems:
a respiratory system

Abnormally viscid sputum → bronchial obstruction and lung inflammation. The thick secretions → increase in infections → damage to bronchial walls → bronchiectasis → cough, sputum, etc.


Patchy areas of collapse with fibrosis and emphysema may occur, and pneumonia and lung abscesses are common complications.


b digestive system

Pancreas: abnormally viscid secretions cause obstructive changes in the ducts. This results in obstruction in the flow of pancreatic juice → inflammatory changes → damage → pancreatic insufficiency → malabsorption → failure to thrive, steatorrhoea, nutritional deficiencies etc.


Liver and gall bladder: there is an increase in the viscosity of bile, which can result in:


• formation of gallstones

• the development of biliary cirrhosis, and subsequent portal hypertension and liver dysfunction.

Intestine: reduced chloride secretion in the gut is accompanied by less water entering the gut. In a newborn, this can result in meconium ileus, in older patients intersussception and faecal impaction.


Salivary glands: abnormal secretions can affect the digestive process.


c integumentary system

There is an excess loss of salt in the sweat, resulting in electrolyte imbalances, muscle cramps, heat stroke etc.


d musculoskeletal system

Scoliosis and kyphosis are more common in individuals with cystic fibrosis. In addition, any respiratory distress that may occur due to lung involvement may result in excessive use of the accessory muscles of respiration. The increase in tension within these muscles may cause discomfort.


6. Why can this disorder affect the growth of the child?

The presence of a chronic disease can affect the growth of a child. In addition, the presence and degree of pancreatic insufficiency and the child’s response to treatment will also influence their growth. Untreated malabsorption will result in failure to thrive in infancy and childhood, and varying degrees of malnutrition in adulthood.



Case 2.2



1. How will you determine if his height is within the normal distribution for his age?

The use of velocity growth curves will help you determine his percentile ranking for height, when compared with boys of his age. As many factors determine an individual’s height, growth charts should only be used as a guide to facilitate clinical decision making. In addition, without information about Hugh’s height over a longer period of time, it is difficult to make a precise statement about whether his height is ‘normal’ for him.


A sample of a velocity curve can be found at the following website:


http://www.apeg.org.au/Portals/0/1841%20boys%202-18%20years.pdf


2. Name some of the causes of tall stature.

Genetics — race and familial; gigantism, due to excessive growth hormone; chromosomal disorders (eg: Klinefelter’s syndrome; Marfan’s syndrome) hyperthyroidism in childhood; precocious puberty.


3. In what circumstances would you refer Hugh to a paediatrician for further assessment?

In Hugh’s case, his height of 170 cm is 15 cm taller than the height of 97% of 11-year olds. This would be justification for referral to a paediatrician for assessment. In addition, any symptoms and signs of Marfan’s syndrome, hyperthyroidism or Klinefelters syndrome would be an indication for referral, or a history of precocious puberty.


4. Can ‘slouching’ lead to long-term problems?

Evidence is lacking regarding any correlation between slouching and future musculoskeletal problems. However, anecdotal evidence does suggest that an association may be present.



Case 2.3



1. What information can you deduce from:
a the type of diarrhoea she has

There is malabsorption of fat.


b the pallor of the conjunctiva

She is likely to be anaemic.


c her BMI

She is underweight.


d tachycardia

In combination with the other clinical features, it would be consistent with the anaemia.


2. What is the average pulse rate and blood pressure for a 6-year old child?

The 50th percentile for a 6-year old boy is 91 mm Hg systolic and 53 mm Hg diastolic.[2]


A blood pressure which is at or over 105 mm Hg systolic (boys), 104 mm Hg systolic (girls) and 68 mm Hg diastolic is considered too high.[3]


Normal heart rate in the 5–12 year old age group varies from 80 to 120 beats per minute.[4]


3. What is your diagnosis?

A malabsorption syndrome — investigation is required to determine the exact cause.


4. Amber is referred to a medical practitioner. What investigations are required?

Diagnosis of coeliac disease requires identification of villous atrophy in duodenal biopsy samples taken via endoscopy. This is often preceded by serological screening tests, the most sensitive and specific being the IgA endomysium and tissue transglutaminase tests.

Related posts:

Eating disorders, substance abuse and behavioural disturbances in adolescence Default ThumbnailMiscellaneous cases in infancy and childhood Sports injuries Acute joint pain Acute back pain Upper limb pain

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Dec 26, 2016 | Posted by in MANUAL THERAPIST | Comments Off on Disturbances in movement, posture or growth in infancy and childhood

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