Paediatric neurological examination

Anita Devlin is currently a consultant in paediatric neurology at Newcastle General Hospital (Westgate Road, Newcastle upon Tyne NE4 6BE, UK). She has a special interest in epilepsy and neurodisability.

Abstract

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Information concerning developmental history and the observation of play that routinely form part of a child psychiatric assessment is also relevant to the paediatric neurological assessment. Some additional interpretation of these observations may be needed: for example handedness and the quality of motor movements during play, as well as its style and content, are important. As in child psychiatry, the child neurologist learns more during observation of play or spontaneous activity than from a formal neurological examination.

Dysmorphic features

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Table 1 Syndromic diagnoses associated with dysmorphism

Neurocutaneous stigmata

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Table 2 Conditions with neurocutaneous stigmata

Neurofibromatosis type 1
Neurofibromatosis type 1 has an incidence of 1 in 2500–4000 live births across all ethnic and racial groups. It is inherited in an autosomal dominant manner, with 98–100% penetrance, and similar neurocutaneous features may be found during examination of the parents’ skin. However, the new-mutation rate is high and accounts for about 30% of cases, so parents may not be affected (Aicardi, 1998). The appearance of the skin varies from minor coffee-coloured macules and axillary freckling to significantly disfiguring neurofibromas. Macrocephaly may be observed in up to 43% of those with this condition and short stature in about 27% (North, 1993).

Neurofibromas are benign tumours or hamartomas which may be located intracutaneously as violaceous nodules, subcutaneously along the nerve sheath, or in the iris as Lisch nodules. The criteria for the diagnosis of neurofibromatosis are shown in Box 1 (Aicardi, 1998). Clinicians should be alert to any reported change in vision in these patients, since optic nerve gliomas affect some 15–20% (Aicardi, 1998). However, lesions at the chiasm produce a bi-temporal hemianopia, which frequently goes unnoticed by the patient, making it mandatory to undertake a clinical assessment of visual fields.

Box 1 Criteria for the diagnosis of neurofibromatosis type 1 (after Aicardi, 1998) The diagnosis may be made in the presence of two or more of the following criteria: Six or more café-au-lait spots >5 mm in diameter in pre-pubertal patients and >15 mm in post-pubertal patients Two or more neurofibromas (intracutaneous or subcutaneous) or one plexiform neurofibroma Freckling in the axillary or inguinal regions Optic glioma Two or more iris hamartomas (Lisch nodules) Typical osseous lesion such as sphenoid dysplasia and tibial pseudarthrosis One or more first-degree relatives with neurofibromatosis type 1 (NF-1)

 

Epilepsy is seen in up to 7% of children with NF1, with all seizure types represented. Although the presence of severe learning disability is rare, moderate learning disability occurs in 10% of cases and the IQ of patients with NF1 is, on average, lower than that of unaffected siblings. Specific learning difficulties affect 40–60% of patients and include visuospatial deficits, perceptual organisation difficulties, poor coordination, poor spatial and verbal memory, reading and writing difficulties and problems with numeracy (Udwin & Dennis, 1995). Up to 50% of children with NF1 have speech and language difficulties (Udwin & Dennis, 1995), including excessive nasality, breathiness and slow acquisition of vocabulary, although overall verbal abilities tend to be higher than non-verbal ones.

Attention difficulties in the absence of hyperactivity have been described (Aicardi, 1998) and, interestingly, distractibility and poor concentration seem more common in children with greater ability. Unhappiness and victimisation by bullying are frequently reported, as are anxiety, poor self-confidence and social withdrawal, and an excess of psychiatric morbidity such as anxiety and depression.

Tuberous sclerosis
The prevalence of tuberous sclerosis is reported to be of the order of 1 in 7000 of the population. It is an autosomal dominant condition with a very high rate of spontaneous mutations (58–68%). Hypomelanotic macules, commonly in an ash-leaf shape, are the most frequent cutaneous manifestation of tuberous sclerosis and are best seen using a Wood’s light. Shagreen patches are yellow/brown elevated layers of epidermis with a granular surface seen in the lumbar region after the age of 2 years. Periungual fibromas, although pathognomonic, rarely appear before puberty. The best-known cutaneous manifestation of tuberous sclerosis is adenoma sebaceum, the papular, acneiform rash that appears in a butterfly distribution over the face between 3 and 15 years of age. Retinal astrocytomas or phakomas are round/oval lesions involving the optic nerve and retina which, when calcified, resemble mulberries.

The characteristic features of the syndrome are shown in Box 2 (Aicardi, 1998). It is a multi-system disorder with effects in the brain, heart, skin, kidneys and lungs. The most characteristic findings in those with tuberous sclerosis relate to the brain. They are cortical tubers, subependymal nodules and the subependymal giant cell astrocytomas that result in hydrocephalus. Seizures are the most common presenting complaint, occurring in 60% of individuals (Webb et al, 1991), with the most commonly described being infantile spasms. However, the full range of seizures may be seen, including complex partial, tonic and atonic attacks.

Box 2 Diagnostic criteria for tuberous sclerosis (after Aicardi, 1998) Pathognomonic features Cortical tuber Subependymal glial nodules Retinal phakomas Adenoma sebaceum Periungual fibroma Fibrous plaque of forehead/scalp Multiple renal angiomyolipomas Suggestive features Immediate relative with tuberous sclerosis Hypomelanotic macules Shagreen patches Cardiac rhabdomyomas Gingival fibroma Multiple renal tumours Renal cysts Infantile spasms Wedge-shaped areas of cortical/subcortical calcification Multiple subcortical hypodense areas on computed tomography (or high T2 signal on magnetic resonance imaging) Peripapillary retinal hamartoma Pulmonary lymphangiomyomatosis

 

Fewer than 50% of those affected are thought to have a learning disability (Webb et al, 1991), although when present, this may be profound (IQ < 20). Cognitive performance seems to be adversely associated with epilepsy, particularly with seizure onset below the age of 2 years. A prevalence study in the west of Scotland (Hunt & Shepherd, 1993) showed that 43% of children with tuberous sclerosis fulfilled DSM–III–R (American Psychiatric Association, 1987) criteria for autism or pervasive developmental disorder. Gillberg et al(1994) reported autism in 61% of those below 20 years of age with tuberous sclerosis and found many with attention-deficit hyperactivity disorder. Sleep disorder is common and particularly trying for the family. It is associated with the presence and severity of epilepsy. The behaviour seen in children with tuberous sclerosis means that they can rarely be left unsupervised as they may exhibit destructive behaviour. They seem impervious to verbal suggestion and appear to be in their own world (Udwin & Dennis, 1995). Attempts to redirect their activity provoke aggression and, in severe cases, the family may view trips out of the house as being too difficult to contemplate.

Occipitofrontal circumference, weight and height

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Plotting the occipitofrontal circumference (OFC) is part of the paediatric neurological examination at all ages. Head circumference measurements from both parents may be relevant, since familial macrocephaly does occur, affects more boys than girls and is observed more commonly in fathers than in mothers (Day & Schutt, 1979). To encourage children’s cooperation it is useful to pretend to be measuring the family for hats; with babies or toddlers leave the assessment until the end of the examination. Special charts are available for OFC (some general growth charts include this only up to 1 year of age). Sequential measurements are more useful than one-off measurements in the interpretation of head size, as head circumference measurements that progressively cross percentiles are more concerning than is a large or small head from birth which is growing along the same percentile. Table 3 shows some causes of macrocephaly and microcephaly and their particular neuropsychiatric associations.

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Table 3 Conditions with variation in head size

In terms of behavioural phenotype, Sotos syndrome is one of the most interesting. Children with this syndrome are large at birth, with advanced bone age and accelerated growth, particularly in the first 5 years. Growth continues above the 97th percentile for height and head circumference but later falls to within the normal range. Early motor and language milestones are delayed and children experience fine motor and coordination difficulties. Cognitive abilities are varied and range from severe impairment to average intelligence, but the profile is uneven, with a higher level of difficulty in verbal processing and short-term memory. Behavioural problems are usually more evident at home than at school and consist of aggressive behaviour and temper tantrums. Children with Sotos syndrome exhibit social and emotional immaturity and have difficulties with concentration and hyperactivity that appear exaggerated because these individuals do not perform at the level expected for their size.

Rett syndrome (Table 3) deserves special mention as a cause of acquired microcephaly. The gene responsible for the disorder is thought to be located on the X chromosome. As the children (who are mostly girls) become older, physical disabilities increase, with hypertonia, spasticity and progressive scoliosis. Psychological/behavioural difficulties include anxiety, panic and screaming (Udwin & Dennis, 1995), which can be provoked by sudden noises or changes of routine. Self-injury is a prominent feature and is associated with hyperventilation and general distress. Sleep disturbance is very common and includes delayed onset of sleep and nocturnal wakening with screaming and laughing.

Cranial nerves

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Table 4 Diagnostic clues from examination of the eyes

It can be difficult to assess visual fields in young children or in those whose development has been delayed, but this should be attempted, especially in the presence of a motor deficit where a coexisting visual-field deficit may explain reduced visual awareness of material presented to that side. A useful method of assessment, if examining alone, is to hold two fingers out to either side within the child’s lateral visual fields and midway between yourself and the child. Then call the child’s name so that he or she looks at you and ask which fingers are moving. Move the fingers on one side and the child will either look or point at them. Call to the child again to bring attention back to your face and repeat the exercise for the other side and for the vertical plane. If an assistant is available a lighted torch can be introduced into the child’s visual field from behind by one examiner while the other interests the child in looking forwards. The child will turn to the object when it has been sighted.

Table 4 contains examples of neurodegenerative disorders that might present later to CAMHS with a change in personality and/or behaviour, possibly associated with reduced academic performance and accompanied by evidence of visual failure. Deterioration in vision accompanied by personality change, intellectual deterioration or motor difficulties is very ominous and requires urgent further investigation. In these circumstances, fundal examination and the examination of eye movements may reveal clues as to the aetiology of the disorder.

In order to examine the fundi it is useful to ask a parent or carer to stand in front of the child and to ask the child to tell you if the adult is making faces behind your back. Most children will avidly concentrate on their parent/carer’s face, allowing a view of the fundi to be obtained. Older children will usually voluntarily fix on a toy or picture but younger children or toddlers may need their interest to be captured by holding up a toy such as a teddy bear which is made to wave occasionally. Avoid using a toy that is too exciting, as the child will become upset if not allowed closer access to it and the opportunity will be lost. Pale optic discs indicative of optic atrophy, associated with evidence of visual failure, are a feature of neurodegenerative disorders such as leukodystrophy and other lysosomal enzyme disorders. These disorders are progressive and motor and mental deterioration occur before premature death. Cherry-red retinal spots may disclose the presence of GM1 gangliosidosis or, rarely, the ‘cherry-red spot-myoclonus syndrome’ (type 1 sialidosis). Pigmentary changes in the retina may be seen with mitochondrial disease.

Other significant neurological disorders are revealed by the presence of abnormal eye movements, which can be tested by moving a developmentally appropriate visual lure. Supranuclear ophthalmoplegia refers to a disturbance in the mechanisms controlling voluntary conjugate gaze, the cause of which lies above the level of those cranial nerve nuclei that control eye movements. Diffuse cerebral disease of any cause may affect both saccadic and pursuit eye movements. In affected children, voluntary side-to-side eye movements (saccades) are hypometric and slow, necessitating the use of a head thrust or forced blinking in order to relocate the gaze on a target. Pursuit movements in these children are small and jerky on following a target. The vestibulo-ocular brainstem reflex, which is independent of voluntary mechanisms, remains unaffected. Conditions producing a supranuclear ophthalmoplegia include juvenile Gaucher disease (supranuclear horizontal ophthalmoplegia), the adult form of GM2 gangliosidosis and type C Niemann–Pick disease (supranuclear vertical ophthalmoplegia). All of these autosomal recessive disorders are progressive, with variable rates of concurrent or subsequent deterioration in motor and intellectual function.

The disorder most familiar to a paediatric neurologist is that of ataxia-telangiectasia, a disorder with autosomal recessive inheritance. Clinical features include progressive cerebellar ataxia with choreo-athetosis in 25% of patients, progressive oculocutaneous telangiectasias, immunodeficiency and a high incidence of malignancy. Although the ataxia and apraxic eye movements are present after the age of 1 year, these might not have been recognised and the child may not be correctly diagnosed with the disorder until later in childhood, when up to one-third show mild learning difficulties (Aicardi, 1998). In most cases, dilated conjunctival vessels in the angles of the eye are noted after the age of 3 years and these spread medially. The course is relentless and the prognosis poor: children are wheelchair-bound by 10 to 15 years of age.

Nystagmus is an involuntary, rhythmical conjugate oscillatory movement of the eyes, it may occur in any plane and may be jerky or pendular, or both. It is important to differentiate true nystagmus from the roving eye movements of the blind child. The most common type is gaze-evoked nystagmus which is jerky and is produced by asking the patient to deviate his or her eyes to either side. This usually reflects dysfunction in the posterior fossa. Impairment of the vestibular tract anywhere from nucleus to end organ can also produce jerky nystagmus. Congenital nystagmus will have been present since shortly after birth and a history of this is usually readily obtainable from a parent or carer. It is usually seen as large-amplitude, pendular, horizontal nystagmus in a child who is otherwise neurologically normal, and it may be present in a parent.

Nystagmus is not a feature of cerebral palsy, including ataxic cerebral palsy, so it should not be accepted as such without further investigation. In boys, the presence of ataxia with nystagmus and variably progressive pyramidal weakness can indicate Pelizaeus–Merzbacher disease, an X-linked leukodystrophy, the first manifestation of which is rotatory nystagmus presenting in the first 3 months of life and variably beyond this time. Unfortunately, this is also a relentlessly progressive disorder and, as in all these disorders, the correct diagnosis is important for the genetic counselling of the parents and siblings and for discussion of the availability of prenatal diagnosis in subsequent pregnancies.

Remaining cranial nerves
Observations should be made of facial symmetry. In upper motor neuron facial weakness, movement of the eyelid, eyebrow and forehead is spared. In congenital hemiplegia, facial weakness is either absent or mild, in contrast with the more marked facial weakness in acquired hemiplegia (Brown et al, 1987).

Oromotor movements should be assessed in any child with a history of drooling and feeding problems along with impaired speech and in whom these problems are more severe than any motor impairments. Worster–Drought syndrome consists of congenital upper motor neuron bulbar palsy with mild pyramidal tetraplegia. Affected children dribble (86%), need a modified diet (80%) and use augmentative communication (80%) (Clark et al, 2000). Most affected children have significant comorbidity: 81% have learning difficulty, 41% neuropsychiatric problems and 28% epilepsy. The disease is a static disorder that falls within the spectrum of cerebral palsy, often associated with bilateral perisylvian cortical dysplasia.

Problems with posture and movement

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Table 5 Abnormal patterns of movement in progressive disorders

To elicit evidence of dysfunction in posture and movement it can be helpful to engage the child in a game, for example with a ball. Gait, power and coordination can be observed as the ball is caught, thrown or kicked and the exercise will also put the child at ease. Toe-walking may suggest lower-limb muscle weakness with or without spasticity. Impaired walking on the heels indicates foot dorsiflexion weakness, whereas difficulty hopping, standing from a squat or climbing stairs are suggestive of weakness in the pelvic girdle. Such weaknesses are seen in muscular disorders, some of which are associated with learning impairment and behavioural disturbance (e.g. Duchenne and Becker muscular dystrophy). Children with delay or disorder of developmental coordination will also find it difficult to walk on their heels or the outsides of their feet (Fogg test) and will show excessive associated movements and postures of their arms and sometimes their mouths.

In younger children, the examination of reflexes is most easily performed with the child sitting on the parent/carer’s lap resting his or her legs in the examiner’s lap. The parent/carer may have to restrain one arm while reflexes are elicited in the other and giving the child a toy to play with helps during examination of lower-limb reflexes. Plantar responses are best left until last and should be performed quickly in series, since the child may find them unpleasant.

Pyramidal signs
The presence of pyramidal signs refers to the finding of increased tone, weakness which is more obvious in the extensor muscle groups of the upper limb and in the flexor muscle groups of the lower limb, and brisk tendon reflexes with an extensor plantar response. This indicates dysfunction of the corticospinal (pyramidal) tracts anywhere from the cerebral cortex to the spinal cord. Cerebral palsy is ‘an umbrella term covering a group of non-progressive, but often changing, motor impairment syndromes secondary to lesions or anomalies of the brain arising in the early stages of development’ (Badawi et al, 1998). Thus, no progression of the motor impairment should be seen if the diagnosis of cerebral palsy is correct and, as a general rule, the impairment should not evolve to include ataxia, disordered eye movements or significant extrapyramidal features.

Congenital hemiplegia is associated with significant learning and behavioural problems, which should be anticipated in order to meet the child’s needs in education and within the family. Children with such impairments have significant peer difficulties, which can be predicted from lower IQ and problems such as hyperactivity reported by teachers (Yude & Goodman, 1999). Psychiatric problems are common and persistent, and in the school years hyperactivity again seems predictive of continuing psychiatric morbidity. Evidence suggests that of those requiring psychiatric help, 70% will still need this help in 4 years’ time (Goodman, 1998).

Ataxia
Ataxia is defined as incoordinated or inaccurate movement which is not due to paresis, alteration in tone, loss of postural sense or the intrusion of involuntary movements (Patten, 1998). However, ataxia may coexist with any of the abovementioned findings in a mixed rather than pure disorder. Evolution of ataxia alongside pyramidal-tract signs associated with even the mildest cognitive or behavioural decline is indicative of a progressive spinocerebellar degeneration. In boys, this should prompt a search for X-linked adrenoleukodystrophy, a disorder of the metabolism of very-long-chain fatty acids, which presents between the ages of 4 and 8 years with gait disturbance and subtle cognitive decline. The spasticity and dementia progress and death results within a few months to several years (Aicardi, 1998). Metachromatic and Krabbe leukodystrophies can present in a similar way. Juvenile- and adult-onset metachromatic leukodystrophy, in particular, may present with regressive behaviour and psychiatric disease.

Ataxic cerebral palsy is a non-progressive ataxia, mainly affecting the trunk and walking balance. It is a heterogenous condition with variable aetiology. Prenatal aetiology is the most common but inherited forms of non-progressive ataxia and those associated with structural malformations of the cerebellum are also described (Aicardi, 1998).

Involuntary movements
Involuntary movements include tics, stereotypies, chorea, dystonia and myoclonus. The evolution of any involuntary movement disorder requires close observation and further investigation.

Tics
A tic is a sudden, rapid, recurrent, non-rhythmic stereotypic motor movement or vocalisation. Childhood tic disorder may be inherited in an autosomal dominant manner and may remit spontaneously. Tourette syndrome is a disorder in which the occurrence both of motor tics and of one or more vocal tics waxes and wanes. There is significant comorbidity with obsessive–compulsive disorder, attention-deficit and hyperactivity disorder, self-injurious behaviour, and anxiety and depression (Robertson, 2000).

Stereotypies
Stereotypies may be seen in learning disability but they are particularly associated with autism. Repetitive behaviours such as hand flapping, knuckle-biting and waving of objects may be seen in fragile-X syndrome, and repetitive hand-wringing/clapping in girls is typical of Rett syndrome.

Chorea and dystonia
Chorea and dystonia may coexist or may be the presenting feature of the same underlying disorder in different individuals which results in dysfunction of the extrapyramidal system or basal ganglia. Chorea is characterised by continuous, randomly distributed and irregularly timed muscle jerks (Marsden, 1998), which intrude into purposeful movement and speech. Dystonia consists of sustained irregular muscle spasms that last longer than chorea or myoclonus and distort the body or limb into twisted postures (Marsden, 1998). Some causes of chorea and dystonia are listed in Table 5. Two of these conditions warrant closer examination because they are relatively common.

The first is Huntington’s chorea, a dominantly inherited disease, of paternal origin in 70–90% of cases. The disease most often presents in adulthood but childhood presentation is well described. Isolated mental deterioration can precede the onset of extrapyramidal features. When evident, rigidity is the dominant extrapyramidal feature in children (Osborne et al, 1982). Seizures occur in 50% of childhood cases and dysarthria is an early and prominent sign.

The second condition worthy of discussion is Wilson’s disease, an autosomal recessive disorder that affects the basal ganglia and causes cirrhosis of the liver. Identification of this disorder is important since it is treatable. Thirty per cent of affected children will present with neurological symptoms after the age of 8 years (Aicardi, 1998), by which time all, or almost all, will exhibit a Kayser–Fleischer ring, a brown granular deposition of copper at the junction of the cornea and sclera. Psychiatric manifestations are often prominent and may constitute the sole or most prominent feature for months or years. Personality change, with irritability and a low threshold to anger, deteriorating academic or work performance and depression are the most common behavioural features, but the full spectrum of psychiatric disorders has been reported in some cases (Akil & Brewer, 1995). The most common neurological manifestation in childhood is dystonia. Faciolingual–pharyngeal involvement, producing mask-like facies, dysarthria and dysphagia with impairment of speech, is usually the dominant feature, although chorea and myoclonic movements may also be observed.

Myoclonus
Myoclonus consists of brief, shock-like muscle jerks similar to those provoked by stimulating the nerve to a muscle with an electric shock. It differs from chorea in that there are distinct pauses between each movement and jerks occur repetitively in the same muscle (Marsden, 1998). In children, myoclonus may be a manifestation of primary generalised epilepsy or a particular epilepsy syndrome, or it might indicate a progressive degenerative disorder. Table 5 lists some of these disorders, two of which I discuss below.

Sub-acute sclerosing panencephalitis (SSPE) is caused by the measles virus and preferentially affects those who suffered wild measles infection in the first 2 years of life. It has declined in frequency since the introduction of the measles, mumps and rubella (MMR) vaccine. The median interval to SSPE is 8 years, with an insidious onset of personality change and subtle intellectual deterioration in 66% of cases (Aicardi, 1998). Within months, myoclonus occurs which is absent during sleep and which may disappear and reappear in wakefulness with no apparent explanation. Generalised seizures, vacant spells and partial seizures may all be seen. Over time, extrapyramidal dysfunction and spasticity evolve, along with dementia. The electroencephalogram is characteristic, with paroxysmal complexes of high-voltage slow waves which may be visible before any clinical manifestation.

Although rare at present, the number of cases of new variant Creutzfeldt–Jakob disease is increasing. Most cases present with early psychiatric symptoms of various types followed, after a median of 6 months, by ataxia (Will et al, 2000) and, subsequently, by involuntary movements and cognitive impairment. In the cases reported from the National Surveillance Unit in Edinburgh (Will et al, 2000), the median duration of the illness was 14 months. Since there is significant variation in the presenting psychiatric disturbance, a high index of suspicion is needed to identify these cases early.

Conclusions

TOP Abstract Dysmorphic features Neurocutaneous stigmata Occipitofrontal circumference,... Cranial nerves Problems with posture and... Conclusions Multiple choice questions References

Multiple choice questions

TOP Abstract Dysmorphic features Neurocutaneous stigmata Occipitofrontal circumference,... Cranial nerves Problems with posture and... Conclusions Multiple choice questions References

1. A diagnosis of neurofibromatosis type 1:
   1. is supported by the presence of 6 or more café-au-lait spots, >5 mm in children
      
   2. is supported by the presence of copious freckles
      
   3. cannot be sustained without a family history
      
   4. is supported by the presence of an optic glioma
      
   5. can be associated with specific learning difficulties affecting non-verbal skills more than verbal skills.
      
   
   
2. The diagnosis of tuberous sclerosis:
   1. is associated with the presence of subependymal glial nodules
      
   2. is rarely seen sporadically
      
   3. is infrequently associated with epilepsy
      
   4. is frequently associated with the presence of autistic features
      
   5. is characteristically associated with adenoma sebaceum.
      
   
   
3. The following diagnoses are associated with microcephaly:
   1. Sotos syndrome
      
   2. fragile-X syndrome
      
   3. Rett syndrome
      
   4. neurofibromatosis type 1
      
   5. Angelman syndrome.
      
   
   
4. The following ophthalmic features are associated with neurodegenerative disorders:
   1. static visual field defects
      
   2. optic atrophy
      
   3. Lisch nodules
      
   4. a cherry-red spot
      
   5. supranuclear ophthalmoplegia.
      
   
   
5. The following statements are true:
   1. tic disorder of childhood may be genetically inherited
      
   2. Huntington’s chorea presents only in adulthood and after the diagnosis is known in the affected parent
      
   3. the search for the diagnosis of Wilson’s disease is not cost-effective because the outcome cannot be altered
      
   4. new variant Creutzfeldt–Jakob disease may initially present with isolated neuropsychiatric disturbance
      
   5. an electroencephalogram should be performed in all children with progressive myoclonus, as it may be diagnostic.
      
   
   

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MCQ answers

References

TOP Abstract Dysmorphic features Neurocutaneous stigmata Occipitofrontal circumference,... Cranial nerves Problems with posture and... Conclusions Multiple choice questions References

1. Aicardi, J. (1998) Diseases of the Nervous System in Childhood. London: MacKeith Press.
2. Akil, M. & Brewer, G. J. (1995) Psychiatric and behavioural abnormalities in Wilson’s disease. In Behavioural Neurology of Movement Disorders (eds W. J. Weiner & A. E. Lang), pp. 171–178. New York: Raven Press.
3. American Psychiatric Association (1987) Diagnostic and Statistical Manual of Mental Disorders (3rd edn, revised) (DSM–III–R). Washington, DC: APA.
4. Badawi, N., Watson, L., Petterson, B., et al (1998) What constitutes cerebral palsy? Developmental Medicine and Child Neurology, 40, 520–527.[Medline]
5. Brown, J. K., Van Rensburg, F., Walsh, G., et al (1987) A neurological study of hand function of hemiplegic children. Developmental Medicine and Child Neurology, 29, 287–304.[Medline]
6. Clark, M., Carr. L., Reilly, S., et al (2000) Worster–Drought syndrome, a mild tetraplegic perisylvian cerebral palsy. Brain, 123, 2160–2170.[Abstract/Free Full Text]
7. Day, R. E. & Schutt, W. H. (1979) Normal children with large heads – benign familial megalencephaly. Archives of Disease in Childhood, 54, 512–517.[Abstract/Free Full Text]
8. Dooley, J. M. (1997) The pediatric neurologic examination. In Pediatric Clinical Skills (ed. R. B. Goldbloom) pp. 223–244. Philadelphia, PA: Churchill Livingstone.
9. Gillberg, I. C., Gillberg, C. & Ahlsen, G. (1994) Autistic behaviour and attention deficits in tuberous sclerosis: a population based study. Developmental Medicine and Child Neurology, 36, 50–56.[Medline]
10. Goodman, R. (1998) The longitudinal stability of psychiatric problems in children with hemiplegia. Journal of Child Psychology and Psychiatry, 39, 347–354.[CrossRef][Medline]
11. Hunt, A. & Shepherd, C. (1993) A prevalence study of autism in tuberous sclerosis. Journal of Autism and Developmental Disorders, 23, 323–339.[CrossRef][Medline]
12. Jones, K. (1997) Smith’s Recognizable Patterns of Human Malformation (5th edn). Philadelphia, PA: WB Saunders.
13. Leonard, H. L. & Swedo, S. E. (2001) Paediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS). International Journal of Neuropsychopharmacology, 4, 191–198.
14. Marsden, C. D. (1998) Clinical Neurology (2nd edn). London: Arnold.
15. North, K. (1993) Neurofibromatosis type 1: review of the first 200 patients in an Australian clinic. Journal of Child Neurology, 8, 395–402.[Abstract/Free Full Text]
16. Osborne, J. P., Munson, P. & Burman, D. (1982) Huntington’s chorea. Report of 3 cases and review of the literature. Archives of Disease in Childhood, 57, 99–103.[Abstract/Free Full Text]
17. Patten, J. (1998) Neurological Differential Diagnosis. London: Springer-Verlag.
18. Robertson, M. (2000) Tourette syndrome, associated conditions and the complexities of treatment. Brain, 123, 425–462.[Abstract/Free Full Text]
19. Udwin, O. & Dennis, J. (1995) Psychological and behavioural phenotypes in genetically determined syndromes: a review of research findings. In Behavioural Phenotypes (eds G. O’Brien & W. Yule). London: Mac Keith Press.
20. Webb, D. W., Fryer, A. E. & Osborne, J. P. (1991) On the incidence of fits and mental retardation in tuberous sclerosis. Journal of Medical Genetics, 28, 395–397.[Abstract/Free Full Text]
21. Will, R. G., Zeidler, M., Stewart, G. E., et al (2000) Diagnosis of new variant Creutzfeldt–Jakob disease. Annals of Neurology, 47, 575–582.[CrossRef][Medline]
22. Yude, C. & Goodman, R. (1999) Peer problems of 9–11 year old children with hemiplegia in mainstream schools. Can these be predicted? Developmental Medicine and Child Neurology, 41, 4–8.[CrossRef][Medline]

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