All of the following are features of Down’s syndrome except:
E. One of the most common causes of death in Down’s syndrome is congenital heart disease. Common phenotypic features seen in children with Down’s syndrome include brachycephaly, broad hands, single palmar crease, epicanthal folds, clinodactyly of fi fth finger, fl at nasal bridge, and wide gap between first and second toes, hypotonia with lax ligaments, short stature, and mental retardation. In addition, children may have congenital heart defects such as ventricular septal defect, duodenal atresia at birth, and increased incidence of leukaemia in childhood. Atlantoaxial subluxation may occur in children with Down’s syndrome, leading to spinal cord compression. The signs and symptoms of hypothyroidism can develop slowly over time and can be difficult to discriminate from those of Down’s syndrome itself. No differences have been found in terms of age of onset of the physical features of puberty in adolescent girls and boys with Down’s syndrome compared with general population trends. In men, reproductive capacity appears to be diminished, but women with Down’s syndrome are able to bear children.
Which of the following is false with regard to behavioural and psychiatric disorders associated with Down’s syndrome?
A. Children with Down’s syndrome are known to be gentle, mild mannered, and easygoing. It is reported that emotional and behavioural problems are less frequent than other forms of learning disabilities. Medical causes must be ruled out before considering a de novo psychiatric explanation for behavioural and emotional problems. The dual diagnoses of Down’s syndrome and autism has been recognized for some time, with recent reports quoting 7% of Down’s syndrome children having autism. Puri et al. (2001) showed in a study of 68 adults with Down’s syndrome that individuals aged over 45 with a history of seizures were significantly more likely to develop Alzheimer’s dementia; nearly 84% of demented individuals with Down’s syndrome developed seizures. This is far higher than the rate of seizures found in Alzheimer’s dementia without Down’s syndrome (10%) and Down’s syndrome without dementia (8%). Early-onset seizures in Down’s syndrome seem to be unrelated to Alzheimer’s type of pathology.
Classifi cation of mental retardation into ‘subcultural’ and ‘pathological’ subtypes was first described by:
A. EO Lewis suggested the distinction between subcultural learning disability and biological learning disability in 1933. ‘Subcultural mental handicap’ refers to the lower extreme variant of IQ distribution seen in the population. The biological or pathological type is seen to be evenly distributed across all social classes, whereas the subcultural type is often seen in social class V and associated with mild rather than profound disability. Kraeplin is associated with dementia praecox, and French psychiatrist Benoit Morel is associated with the theory of degeneration in schizophrenia. Kanner is associated with infantile autism.
All of the following are true with regard to foetal alcohol syndrome except:
E. The diagnostic criteria for foetal alcohol syndrome includes confirmed maternal alcohol exposure in addition to evidence of characteristic facial anomalies such as short palpebral fissures and abnormalities in the premaxillary zone, including flat upper lip, cleft palate, flattened philtrum, and flat midface. Evidence of growth retardation includes low birthweight for gestational age or decelerating weight gain over time not due to undernutrition. Features suggestive of neurodevelopmental abnormalities such as decreased cranial size at birth, structural brain abnormalities (e.g. microcephaly, partial or complete agenesis of the corpus callosum, cerebellar hypoplasia), and neurological signs (impaired fi ne motor skills, neurosensory hearing loss, poor tandem gait, poor eye–hand coordination) are also included in the diagnostic criteria. Congenital cataract is not suggestive of foetal alcohol syndrome; in infants with cataract, other explanations for developmental problems such as toxoplasmosis, congenital rubella, or metabolic syndromes must be sought.
A subcultural rather than neuropathological explanation for learning disability is supported by which of the following?
C. Subcultural learning disability refers to the lower extreme variant of IQ distribution seen in the population and it often seen in social class V and associated with mild rather than profound disability. Many family members of individuals with subcultural learning disability may also have borderline IQ, probably due to the effects of shared environment and social influences. In contrast, the biological or pathological type is seen to be evenly distributed across all social classes. Dysmophic features are more likely to be seen in those with a biological cause of learning disability with syndromic presentation being noted. Subcultural learning disability suggests the concept of a psychosocial causation (e.g. physical and emotional neglect). This is controversial.
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