From StudyingMed

< BGDB‎ | Lectures
Jump to: navigation, search

This learning activity is not yet finished -- we still have to improve it to reach our stringent standards. Please help out!

Get slides.

Epidemiology

  • Prevalence
    • 1%of children have a major disability
      • Ie. an ongoing disability that affects life in every aspect and requires life-long support
    • 5% of preschoolers have developmental problems and need formal intervention
      • Commonest is speech/language delay
    • 15% of school children have learning problems, need intervention
      • In particular, may have problems reading
      • These problems rear their heads later than in preschool because of the more difficult tasks of school level

Implications of developmental delay

  • Child
    • Education, social, support, health
  • Family
    • Bereavement, social support, expectations, aetiology (why did it happen? will it happen again?), genetics, finances, planning for the future, worries about problems that extend beyond the life of the parent
    • Many parents consider this to be as difficult as in the case of a fatal illness
    • Shed expectations of the child and form new expectations
    • With significant disability, one parent may not be able to work full time
      • Financial problems, require support (parents need to give up work for longer than expected due to disability - a lot of these things are not necessarily covered by financial support)
    • Grief rears its head whenever the parents need to shed more expectations (e.g. during transition to school, high school, puberty, etc). Need social support at crucial times of the child's existence
  • Society
    • Social policy, funding (recent modifications to the national budget), inclusion, need an increase in generic services, special services, consumer advocacy and participation (particularly in the decisions that affect them)
    • Old policy–children were gathered and put in institutions
      • New – all people in the community are valued
        • Everyone has the right to participate in determining their own lives and who their peers are

Definitions

  • Developmental delay definition is applicable to children under 5 only
    • After this age (school age), other standards exist for assessing children and for diagnosing disability
    • It is too vague for parents to understand the implications beyond these years
  • Definition – child is attaining usual milestones of development significantly later than expected for age
    • Most milestones are variable, but quite consistent and sequential
      • Eg. walking 9-18 months (median 13 months; wide acceptable range), sitting unaided: 6-8 months (remarkably narrow - normally 7 months +/- 1 week)
    • Delay can be confined to 1-2 specific developmental areas
      • Can include all areas – global developmental delay

When is it delayed?

  • Sufficiently behind for age to give rise to concern or need for further assessment/intervention
    • Take action if attainment is 3⁄4 or less of expected for delay (e.g. if the child is working at the level of 9 months when they're 12 months is considered to have developmental delay)
      • Based on bell shaped (normal/Gaussian) curve: ≥2 SD below the mean

Early diagnosis

  • Advantage to early diagnosis? Is it worth the parental anxiety (even if it might resolve itself spontaneously)?
    • Yes
      • Plasticity of brain development – brain wiring at these times is easily changed (most of growth in head circumference is dendritification - formation of neural connections, and this may be receptive to environmental changes)
      • Sensitive periods of developmental aspects
      • Prevention of secondary disability and handicap (handicap - the child being unable to achieve what they could due to neglect e.g. child with cerebral palsy can benefit from physiotherapy by preventing joints from ceasing in abnormal positions)
        • Prevent worsening – eg. cerebral palsy, encourage motor development instead of nothing (child's own development is enhanced simply by support of the family)
      • Can result in increased competence, self-sufficiency and increased quality of life
        • Worthwhile in the long term
      • Allows planning/provision of family support
      • Allows investigation of aetiology and genetic counselling if necessary (stop it happening again)



Sensitive periods of developmental aspects

  • Phases in development of children when brain development, sensory input and environment act together to facilitate acquisition of a particular skill
    • If skill development is interrupted at the time, skill learning may be harder and imperfect later
      • eg: hearing impairment can result in language problems (people with no hearing problems in this early stage who are exposed to several languages acquire all these languages simultaneously and to the same extent)
      • eg: turn in the eye (wandering eye) – development of visual pathway may be impaired (brain suppresses the development of the eye with a squint - strabismus)
        • lack of use of one or both eyes can result in permanent loss of vision even though eye recovers
        • treatment is to put an eye patch on good eye to prevent this adaptation

Determinants

  • Development is a continuous process affected by interaction between genetics and the environment
    • Ie: development can be adversely and advantageously influenced by environment
    • While: degree, nature and duration of change are genetic
      • US studies have shown morphological changes in the brain due to environmental disadvantage

Presentation

  • Developmental delay can present at birth – Down’s syndrome
  • Risk factor – in history
    • Follow up of "at risk" patients
  • Developmental screening
  • Failure in milestones
  • Parental concern – nearly always valid
    • Can be about behaviour/emotions rather than development necessarily
      • 83% of developmental problems could be identified by earlier parent concerns about behaviour or language
    • Should not be fobbed off ("You shouldn't compare children", "She'll get there in her own time", "Einstein didn't talk till he was four")

Presentation and diagnosis and assessment

  • 12-18 months (last 3 are "red flags" - might be okay, but could not be)
    • Delay in motor milestones (head control, sitting, walking)
    • Feeding problems (poor sucking, small feeds, GOR, FTT)
    • Irritability (crying, resistance to cuddling)
    • Irregular on handling (floppy, stiff, arching, early marked handedness - infantile hemiplegia (shouldn't develop until the 2nd year of life))
  • 18-36 months
    • Speech delay, hearing concerns
    • Severe, frequent tantrums
    • Non compliance, persistent overactivity
    • Clumsy, poor coordination
  • 36-60 months
    • Delay in speech, disruptive behaviour
    • Slow acquisition of skills, poor social and peer relationships
  • Diagnosis:
    • Observation,screening
    • Definitive requires multi-disciplinary assessment and should lead to appropriate services
  • Assessment
    • Psychologist (cognitive), medical (aetiology), social worker (family support), speech pathologist (language)
    • Medicalrole:
      • Aetiology diagnosis, exclusion of other problems, health surveillance, medical aspects of management, coordination, collaboration

Observation of the child

  • ?Screening test (Denver2, ADST, Brigance)
  • Parent questionnaires
  • Observe the child, detect delay
  • Refer the child elsewhere

Dealing with concerns about development

  • Parents not particularly concerned: review regularly, until discharge or referral
  • Concerns: speech delay: arrange audiometry (refer to speech pathologist)
  • Concerns: Disruptive behaviour - enquire about communication, refer to community child and family team, refer to paediatrician
  • Concerns: behind other children - refer to paediatrician, refer to diagnostic assessment team, developmental unit

Definitive diagnosis

  • Multi-disciplinary assessment
  • Evolving diagnosis in early childhood
  • Should lead to appropriate services

Specific developmental delays

  • Most common are speech/motor delays
    • Motor
      • Often presents with child not walking by 18 months
      • Mild delay can be familiar, associated with decreased muscle tone
        • Can often improve
      • More severe or unusual pattern (eg. pedalling on back) needs further investigation
        • may be neurological or neuromuscular (eg. cerebral palsy, muscular dystrophy)
      • Motor delay is not closely related to overall cognitive developmental delay
    • Speech
      • Often presents with child not speaking by 2.5 years
        • Ie. not joining words or not having a wide vocabulary
        • Present in 12-15% of 3 year olds
      • Needs assessment by a speech pathologist
        • Speech or comprehension assessment
        • May need cognitive assessment
      • Speech delay is the presenting sign in many cognitive disorders
        • Eg. Autism
        • There is a large difference between understanding and comprehending (receptive language)
      • Causes
        • Sensorineural hearing impairment – hearing music doesn’t mean can hear speech
        • Expressive language delay – delay in speech, normal comprehension
        • Expressive/receptive delay
        • Global developmental delay
        • Autistic spectrum disorder
        • Rare – specific epilepsy syndrome

Global developmental delay

  • Causes:
    • 65% are prenatal
      • Genetic – chromosomal, microdeletions, single gene defect (X-linked etc)
      • Dysmorphic syndromes of unknown origin
      • Acquired – infection (eg. rubella), teratogens (maternal drugs/toxins; alcohol is the most common)
    • Perinatal<10%
      • Hypoxia, infection
    • Postnatal
      • Infection, trauma (eg. head injury), hypoxia

Down syndrome

Epicanthal folds, characteristics of the hands, space between toes, clubbing, central cyanosis (heart defects)

  • Trisomy 21
    • Whole extra chromosome 21 often due to non-disjunction in the ovary
    • Translocation (parent has normal number of chromosomes, but part of chromosome 21 is found translocated on chromosome 14 or 15
      • When passed to child, have extra part of chromosome 21
    • Mosaicism – some cells are euploid (normal number of chromosomes) and some are trisomic (3 copies of a given chromosome)
      • With Down’s syndrome, mosaic children tend to be more normal than full Downs (but constitute <1% of Down syndrome children)
    • Huge individual variation in effect of disease
  • Epidemiology
    • Same incidence throughout all ethnic groups worldwide
    • 1/750 live births
    • Risk factors
      • Increased maternal age, esp. >37
      • Most DS are born to young mothers – more young mothers have children
    • Prenatal screening/diagnosis is available
  • Cognitive impairment
    • DS, most have intellectual disability, adaptive learning is less affected
    • Good social/independence skills (especially with other DS people)
      • Can often function well in social groups/with peers

Environmental factors

  • Nutrition
    • Maternal–iodine (lack: cretinism)
    • Infant (calories, FA–important in brain development, other)
  • Pre-natal infection
    • Rubella, CMV, toxoplasmosis
  • Pre-natal toxins
    • Alcohol, drugs, anti-epileptic drugs
  • Peri-natal factors
  • Post-natal injury, hypoxia, infection
  • Deprivation
    • Abuse and neglect
  • Other
    • Socioeconomic factors
    • Language–multi/bilingual

In 40% of severe and 70% of mild, no cause of disability can be found

Aetiology investigation

  • Allows definition of cause
    • Allay blame/guilt, information on expected outcome, and thus specific treatment/management
  • Can exclude, define known genetic disorders
    • Thus define risk of recurrence and facilitate pre-natal diagnosis advice
  • Disadvantages:
    • Doesn’t lead to cure, often can provide no answers and not change disability management, fear, pain

Examination/history etc

  • History:
    • Family history
    • Pregnancy, birth and neonatal period
    • Infancy (esp. hearing, vision, immunisation)
    • Developmental history
    • Social history
  • Examination
    • Stature, head circumference
    • Dysmorphic features
    • Neurological, motor signs
  • Observation
    • Of play, behaviour
  • Investigations
    • Chromosomes, DNA studies, TFT
    • Possible neuroimaging
      • Esp: micro/macrocephaly, cns signs, parental anxiety/assurance

What can be done

  • Early intervention
    • Organised program of educational support and other activities (speech therapy, physiotherapy)
      • Doesn’t reverse impairment
      • Can improve condition
    • Support to family: counselling, information, support networks
    • Support for social integration
  • Medical role in particular involves coordination of a multi-disciplinary team for interventions and support

Long term outcomes

  • Some can resolve (eg. expressive language delay), some predispose to difficulties later (receptive language delay)
  • Delay due to abuse/neglect can resolve with environment
  • Global tends to correlate with intellectual and learning difficulties

NB

  • TS- tuberous sclerosis: a single gene defect (one on chromosome 9, or one on chromosome 16). A multiple organ disease, with some skin signs, but also affects growth/developmental delay, seizures and autism
  • William's syndrome: cardiac problems, renal problems, tipped nose, wider low lips, dark, deep-blue eyes, stellate pattern in the iris, overall developmental delay (moderate). This is associated with a deletion on chromosome 7.
  • Foetal alcohol syndrome: thin upper lip, hard to notice
  • Question as to whether catch up growth can reverse developmental delay due to child abuse/neglect/chaotic backgrounds