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    Neurodevelopmental Disorders

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    Natalie Li
    Developmental delay describes delayed acquisition of milestones and may indicate developmental disabilities. Common causes include intellectual disability with or without autism spectrum disorder, Down syndrome, fragile X syndrome, Williams syndrome, and Angelman syndrome. Intellectual disability is a permanent cognitive impairment beginning in childhood that affects functioning. Autism spectrum disorder involves deficits in social skills and repetitive behaviors. Cerebral palsy is a non-progressive brain injury that causes abnormal motor function.

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    Neurodevelopmental Disorders

    Uploaded by

    Natalie Li
    102 views6 pages
    Developmental delay describes delayed acquisition of milestones and may indicate developmental disabilities. Common causes include intellectual disability with or without autism spectrum disorder, Down syndrome, fragile X syndrome, Williams syndrome, and Angelman syndrome. Intellectual disability is a permanent cognitive impairment beginning in childhood that affects functioning. Autism spectrum disorder involves deficits in social skills and repetitive behaviors. Cerebral palsy is a non-progressive brain injury that causes abnormal motor function.

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    Developmental delay describes delayed acquisition of milestones and may indicate developmental disabilities. Common causes include intellectual disability with or without autism spectrum disorder, Down syndrome, fragile X syndrome, Williams syndrome, and Angelman syndrome. Intellectual disability is a permanent cognitive impairment beginning in childhood that affects functioning. Autism spectrum disorder involves deficits in social skills and repetitive behaviors. Cerebral palsy is a non-progressive brain injury that causes abnormal motor function.

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    102 views6 pages

    Neurodevelopmental Disorders

    Uploaded by

    Natalie Li
    Developmental delay describes delayed acquisition of milestones and may indicate developmental disabilities. Common causes include intellectual disability with or without autism spectrum disorder, Down syndrome, fragile X syndrome, Williams syndrome, and Angelman syndrome. Intellectual disability is a permanent cognitive impairment beginning in childhood that affects functioning. Autism spectrum disorder involves deficits in social skills and repetitive behaviors. Cerebral palsy is a non-progressive brain injury that causes abnormal motor function.

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    of 6

    NEURODEVELOPMENTAL DISORDERS

    DEVELOPMENTAL DELAY

    Definition

    Developmental delay describes the delayed acquisition of milestones, and is a description not a diagnosis. It
    may be a symptom of developmental disabilities.

    Common conditions

     Intellectual disability with or without autism spectrum disorder .


    o More on ASD later
    o Mild ID (IQ 55-70) with ASD – these children go to support units in mainstream schools
    o Moderate ID (IQ 40-55) – these children go to a support unit IO class in a mainstream school.
    At around halfway in the moderate ID category (~IQ 50), the benefits of mainstream
    integration tend to be lost as the children are so far behind their peers. These children go to
    a special school.
     Single non-heritable gene conditions
    o Down Syndrome most common
     Other heritable conditions
    o Fragile X (discussed later)
     Point mutations
    o Williams syndrome
    o VCFS (chromosome 22)
    o Angelmans (chromosome 15)
     Rare syndromes
     Undiagnosed syndromes

    INTELLECTUAL DISABILITY

    ID is a permanent disability of cognition


    beginning in childhood. In preschool we
    call it developmental delay. It causes
    impaired cognition, i.e. perception,
    memory and reasoning that promotes
    understanding, planning and
    problem solving. The onset is in the
    developmental period, and the
    severity is determined by the level
    of functional impairment. 2-4%
    population is affected, with more
    males affected (M:F 2:1).
    In children with ID, things take longer and more repetitions are needed. In childhood, learning does occur, but
    the functional gap widens.

    Note that no matter how severely handicapped you are, you have to go to school at the age of 5. Also note
    that above graph and table are separate and do not correlate.

    COMORBIDITIES

     Autism spectrum disorders


     Epilepsy
     Cerebral palsy
     Sensory impairments (often missed) – such as hearing/vision
     General health (may be related to underlying condition) leads to shorter life expectancy

    INVESTIGATIONS

     Assessment should include:


    o PCR for Fragile X, comparative genomic hybridisation (CGH) microarray
    o FBC/UEC/LFTs/TFTs
    o Urine metabolic screen
    o Hearing and vision testing
     MRI indicated if there are neurological signs
     EEG only if seizures

    EFFECT ON FAMILY

     Chronic sorrow and joy


     High care needs with activities of daily living and therapies
     Family stress, relationship breakdown – note that some children are in out of home care
     Financial – e.g. carer allowance, carer payment. Recently there is a transition to the NDIS – basically a
    butt load more paperwork

    AUTISM SPECTRUM DISORDER

    Definition

    ASD is characterised by deficits in social communication and social interaction. It involves repetitive behaviours
    and restricted interests. Deficits must be

     Maladaptive
     Present in multiple contexts
     Begin in early development
     Not better explained by intellectual disability

    The presentation is highly variable, and depends on the child’s age and co-morbidities. The child’s “adaptive
    function” determines the level of ASD

     Level I Requiring support


     Level II Requiring substantial support
     Level III Requiring very substantial support
    Some statistics

     40-70% have language impairment


     45% have intellectual disability
     8-30% have epilepsy
     ADHD seen in 28-44%
     Anxiety/depression in 70%

    Medications have a limited role

     Stimulants e.g. ritalin: reduce activity and increase attention


     SSRIs e.g. fluoxetine: reduce anxiety, repetitive behaviours and alleviate depression
     Anti-psychotics e.g. risperidone: reduce agitation, self-injury and aggression. Side effects of
    risperidone include weight gain and dyskinesia (which may not be treatable)

    CEREBRAL PALSY

    CP is a non-progressive motor disability which results in abnormal posture movements and tone, due to brain
    injury in early brain development. Prevalence is 2 per 1000. Signs may change as the child develops, including
    motor delay/feeding difficulties/abnormal movements/hand preference. Types of CP include:

     75% spasticity (hemiplegia, diplegia or quadriplegia)


     20% dyskinetic (basal ganglia damage)
     5% ataxic (cerebellar lesions, hypotonia)

    Statistics

     10% due to perinatal asphyxia


     10% due to other brain malformations
     80-90% have abnormal MRI
     Comorbidities:
    o 25-33% epilepsy
    o 50% cognitive impairment
    o 10% vision, 4% hearing impairment

    Management

    Management depends on the degree of handicap. Naturally, the worse the disease, the more aggressive the
    treatment is. It can involve:

     Speech/physiotherapy/OT/Educational
     Rehab teams may use PEG feeds/Botox/Surgery

    Treatment options

     Strengthening
     Stretching
     Splinting
     Botulinum toxin A
     (Selective Dorsal Rhizotomy) level 2 or 3
     Serial casting Level 1-3. Usually to get feet into a good position for walking
     Orthopaedic surgery
     Oral medications (Level 3-5)
     Intrathecal baclofen pump treatment (level 3- 5)
     Pain management (level 3-5). More tone = more pain
     Scoliosis surgery
     Adaptive equipment
     Palliative care

    Opposite shows GMFCS – the gross motor function classification score, displaying the physical
    abilities and needs of different grades of severity – as we see it ranges from normal to requiring
    a walker or a wheelchair

    DOWN SYNDROME

    Down syndrome occurs in 1:1000 live births, and 95% are due to complete trisomy 21,
    3-4% from unbalanced translocation and 1% from mosaicism. Complications include:

     Intellectual disability
     Cardiac
     Thyroid
     Respiratory
     Vision/hearing

    Management

     Triple screen (AFP/HCG/oestriol) + US = 85% detection, with 5% false positive rate


     Early issue is feeding and growth
     Cardiac – 40-50%
    o Atrioventricular canal
     Development – delayed gross motor and speech, mild to moderate ID, IQ decreases from 60 to 40 on
    average with increasing age
     10% have autism
     Alzheimers – 75% by 60 yo

    FRAGILE X

    Fragile X affects boys mainly. The degree of ID is related to the


    number of repeats, and can range from mild to severe. These
    children are tall with long face with prominent ears, and often
    have autistic features.

    It is caused by mutation of the FMR1 gene on X chromosome (so


    the mother may be mildly affected). There is a trinucleotide
    repeat sequence. Carriers have 50-150 repeats, while >200
    repeats is generally found in affected individuals

    Frequency

     1/1250 males
     1/5000 females
    Medical concerns

     Large ears, long face, large testes


     20% can have epilepsy
     Ligamentatous laxity

    Fragile X learning

     0-4: developmental delay, speech delay, perseveration, cluttering, hyperactivity, gaze aversion,
    flapping, sensory defensiveness
     5-18+: Mild – moderate (+) intellectual disability, females 1/3 – ½ have ID, social aversion/anxiety,
    poor coordination

    VELOCARDIOFACIAL SYNDROME

    Velocardiofacial syndrome occurs due to an interstitial deletion at


    22q11.2 (del 22q).

    There is autosomal dominant transmission, and prevalence is 1 in


    4000.

    Abnormalities

     Mild – moderate intellectual disability


     Behavioural problems
     Learning difficulties
     Palatal abnormalities, VPI (50%) CSOM
     Congenital heart disease (75%)
     Characteristic facies (beaked nose, narrow palpebral fissures, small chin)
     Thymic aplasia, hypocalcaemia (rare)

    WILLIAMS SYNDROME

    Williams syndrome is caused by micro-deletion elastin (ELN) gene chr (de novo). Prevalence is 1/8,000.
    Features include:

     Infantile hypercalcaemia
     Supravalvular aortic stenosis (75%)
     Elfin-like facies
     Growth deficiency
     Microcephaly
     Mild to moderate intellectual disability
     Verbal > performance skills
     Hyperactivity
     Emotional lability
    ANGELMAN SYNDROME

    80% of angelman syndrome cases is due to 15q11-q13 (UBE3) maternal deletion, but other
    causes can include paternal uniparental disomy. A healthy individual receives two copies of
    chromosome 15, but due to epigenetic imprinting, one is silenced. The maternal allele is
    almost exclusively the active one, so if the maternal allele of UBE3A is lost or mutated, the
    result is Angelman Syndrome.

    Features

     Laughing paroxysms, excitable


     Hand flapping
     Seizures
     Large mouth, jaw, fair/blonde
     Severe intellectual disability
     Hyperactive
     Jerky “puppet” gait
     Emotionally labile

    Management

    Multi-disciplinary management, including:

     Skills development
     Family support
     Community engagement

    Challenges

     Self-care – daily life harder for families


     Behaviour – ‘terrible twos’ persist
     Safety – kitchens, roads, public places
     Personal hygiene – toileting, menstruation
     Sexuality – masturbation, interests, vulnerability, fertility
     Mental health - boredom, sadness, anxiety

    Natural history

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