Level 2 - Developmental Delay and Emotional/Behaviour Problems COPY Flashcards

1
Q

What is ASD?

A
  • Lifelong disorder, present from early childhood which significantly limits or impairs activities of daily living
  • Continuum of behavioural states
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2
Q

Epidemiology of ASD? When do they usually present?

A
  • >1/200
  • Males > Females
  • Usually presents between 2-4 years old
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3
Q

Aetiology of ASD?

A

o Idiopathic

o Genetic

o Family history

o Associated epilepsy in 30 %

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4
Q

Associated conditions with ASD?

A

o Anxiety

o ADHD

o Challenging behaviour

o Learning difficulties

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5
Q

What is Asperger’s syndrome?

A

o Child with social impairment of an autistic spectrum disorder but at milder end

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6
Q

What core symptoms of social communication are present in ASD?

A

 Does not seek comfort, form close friendships, prefers own company, no interest in playing with others

 Gaze avoidance, socially and emotionally inappropriate

 Does not appreciate that others have thoughts and feelings

 Delayed language development - delay babbling, less words, regression of speech, refers to self as you/he/she

 Formal pedantic language, monotonous voice

 Repeats instructions

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7
Q

What core symptoms of restricted, repetitive patterns of behaviour are present in ASD?

A

 Stereotyped or repetitive movements, use of objects or speech

 Inflexible adherence to daily routines or ritualised patterns of behaviour

 Highly restricted, fixed interests that are abnormal in intensity or focus, such as strong attachment to, or preoccupation with unusual objects

 Fascination with sensory aspects of the environment or over/under reactivity to sensations

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8
Q

What functional problems are seen in ASD?

A

o Sleeping problems

o Feeding problems

o GI disturbances

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9
Q

DDx of ASD?

A
  • Specific language delay
  • Global developmental delay
  • Stereotypic movement disorder
  • ADHD
  • Mood disorder
  • Anxiety disorder
  • Attachment disorder
  • Conduct Disorder
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10
Q

Investigations in ASD?

A
  • Autism diagnosed by assessment including detailed history, collateral from school
  • Referral to autism team
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11
Q

Parental advice in management of ASD?

A
  • Parent training

o Increase knowledge of ASD

o Enhances parent-child interaction

o Benefits entitled

o Sleep hygiene

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12
Q

Behavioural and drug management of ASD? 3 drugs

A
  • Early Intensive behavioural intervention

o Speech therapy, special schooling starting at 3

o National Autism society

  • Drugs

Risperidone (aggression)

Melatonin (sleep)

SSRIs (repetitive behaviour)

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13
Q

Complications of ASD during childhood?

A

o Impaired social situations

o Challenging behaviours

o Increase vulnerability to mental health problems

o High stress to parents

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14
Q

Complications of ASD during adulthood?

A

o Unemployment

o Poor general health

o Social isolation

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15
Q

How much of visual impairment is genetic?

A
  • 50% of visual impairment is genetic
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16
Q

When is child registered blind?

A
  • A child is registered blind when best corrected vision is < 3/60
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17
Q

When is a child partially sighted?

A
  • Partial sight= visual acuity >3/60 but <6/60
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18
Q

How common is severe visual impairment?

A

Severe visual impairment = 1/1000

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19
Q

Inherited aetiologies of blindness?

A

i) Trisomy 21
ii) CHARGE association

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20
Q

Congenital aetiologies of blindness?

A

i) Cataract
ii) Albinism
iii) Retinal dystrophy
iv) Retinoblastoma
v) Congenital infection e.g. CMV, rubella

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21
Q

Perinatal aetiologies of blindness?

A

i) Retinopathy of prematurity
ii) Hypoxic ischaemic encephalopathy
iii) Cerebral damage
iv) Optic n. hypoplasia

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22
Q

Postnatal aetiologies of blindness?

A

i) Trauma
ii) Infection e.g. ophthalmic herpes simplex
iii) Juvenile idiopathic arthritis: iritis
iv) Vitamin A deficiency

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23
Q

What symptoms do you get in cataracts and retinoblastoma?

A
  • Cataracts, retinoblastoma lose red light reflex
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24
Q

What is CHARGE association?

A

o Coloboma (hole in part of eye) of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness

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25
Symptoms of vitamin A deficiency?
o Xerophthalmia, progress from night blindness to corneal ulceration and scarring o Increased susceptibility to infection
26
Investigations in blindness?
- Vision Assessment o CNII, III, VI - Fundoscopy - Eye test
27
Management of blindness?
- Vitamin A supplementation - Treat underlying cause
28
Types of deafness?
- Congenital or acquired and sensorineural or conductive
29
When would deafness affect development?
- Hearing loss of up to 20dB- does not affect development, loss of over \>40dB will affect speech and language
30
What is sensorineural deafness?
 Caused by lesion in cochlea or auditory nerve and usually present at birth
31
What is conductive deafness?
 From abnormalities of ear canal or middle ear (effusion with otitis media)
32
How common is hearing loss?
- 1 in 500 new-borns have bilateral sensorineural hearing loss \>40dB - Conductive hearing loss more common
33
Genetic causes of sensorineural hearing loss?
o Non-syndromic o Syndromic  Waardenburg syndrome (heterochromia)  Alport syndrome (kidney malformations)  Usher’s syndrome (retinitis pigmentosa)  Pendred syndrome (goitre)
34
Acquired causes of sensorineural hearing loss?
o Antenatal/Perinatal  TORCH infections  Hyperbilirubinaemia  HIE o Post-natal  Drugs (Aminoglycosides, frusemide)  Meningitis/Encephalitis  Head injury  Acoustic neuroma
35
Causes of conductive hearing loss?
- Otitis media with effusion (glue ear) - Wax - Congenital abnormalities o Pierre Robin o Treacher-Collins o Cleft Palate
36
Symptoms of sensorineural hearing loss?
o Usually present at birth o Irreversible and can be profound
37
Symptoms of conductive hearing loss?
o Associated URTI o Episodes of hearing loss which resolve o May last months/years
38
Investigations in hearing loss? What does it test?
- Universal new-born hearing screening: o Otoacoustic emissions  Microphone placed in external meatus detect cochlear sounds produced by outer hair cells  Detects function of peripheral auditory system important in SNHL o Audiological brainstem responses  Ears covered with headphones and clicks emitted  Electrodes measure brain wave activity  SNHL
39
Assessment of hearing loss?
- Cranial nerve 8 test o Rinne’s Test o Weber’s Test - Audiology o Impedance audiometry test (conductive)  Measure air pressure within middle ear and compliance of tympanic membrane
40
General measures in hearing loss?
o Provide support to develop signed or spoken communication  Makaton simplified signing o Child sit in front of class
41
Management of sensorineural hearing loss?
o Hearing aids o Bone anchored hearing aid o Cochlear implants  Profound sensorineural deafness who do not benefit from hearing aid  Electrode inserted surgically into cochlea that stimulates auditory nerve
42
Management of conductive hearing loss?
o Medical  Abx, decongestants o Surgery  Tympanostomy tubes (Grommets) with or without adenoid removal o Hearing Aids
43
Definition of developmental delay?
 Slow acquisition of all skills (global delay) or of one particular field (specific delay)
44
Definition of developmental learning difficulty?
 Used in relation to children of school age and may be cognitive, physical or both
45
Patterns of developmental delay?
o Slow but steady o Plateau effect o Regression
46
When does global developmental delay present?
- Global developmental delay presents usually in first 2 years of life
47
Prenatal causes of developmental delay?
* DS, FXS, mitochondrial disorders * Cerebral dysgenesis * Neurofibromatosis, TSC * TORCH infections * Occlusions, haemorrhage * Hypothyroidism, phenylketonuria * Alcohol and drug abuse
48
Perinatal causes of developmental delay?
 HIE  Extreme prematurity  Hypoglycaemia, hyperbilirubinaemia
49
Postnatal causes of developmental delay?
* Meningitis, encephalitis * Suffocation, seizures * Head injury * Stroke * Cerebral palsy
50
Symptoms of developmental delay?
- Defects in 4 domains of development - Poor schooling, feeding, behaviour
51
Conditions with delays in motor development?
o Cerebral palsy
52
Conditions with delays in speech and language development?
o Hearing loss o Cerebral palsy o Cleft palate o Environmental deprivation o Include delay in language comprehension, expression Stammering, dysarthria, dyspraxia, pragmatics
53
Conditions with delays in social skill development?
o ASD
54
Investigations possible in developmental delay? (7)
- Cytogenetic - Metabolic - Infection - Imaging - Neurophysiology - Hearing and vision tests - Cognitive assessments
55
What cytogenetic tests can be done in developmental delay?
o Chromosome karyotyping, DNA FISH, Fragile X screen
56
What metabolic tests can be done in developmental delay?
o TFTs, LFTs, bone profile, U&Es, plasma amino acids o CK, lactate, VLCFA, white cell enzymes, organic acids, urine mucopolysaccharides, lead, urate, ferritin o Maternal amino acids
57
What infective tests can be done in developmental delay?
o Congenital infection screen
58
What imaging tests can be done in developmental delay?
o Cranial USS o CT/MRI o Skeletal survey
59
What neurphysiology tests can be done in developmental delay?
o EEG, nerve conduction studies
60
Management of developmental delay?
- Treat underlying cause - Supportive help to function to best of their ability - Relative therapy to improve skills – SALT, physio, carers, etc