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

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
Q

Symptoms of vitamin A deficiency?

A

o Xerophthalmia, progress from night blindness to corneal ulceration and scarring

o Increased susceptibility to infection

26
Q

Investigations in blindness?

A
  • Vision Assessment

o CNII, III, VI - Fundoscopy - Eye test

27
Q

Management of blindness?

A
  • Vitamin A supplementation
  • Treat underlying cause
28
Q

Types of deafness?

A
  • Congenital or acquired and sensorineural or conductive
29
Q

When would deafness affect development?

A
  • Hearing loss of up to 20dB- does not affect development, loss of over >40dB will affect speech and language
30
Q

What is sensorineural deafness?

A

 Caused by lesion in cochlea or auditory nerve and usually present at birth

31
Q

What is conductive deafness?

A

 From abnormalities of ear canal or middle ear (effusion with otitis media)

32
Q

How common is hearing loss?

A
  • 1 in 500 new-borns have bilateral sensorineural hearing loss >40dB
  • Conductive hearing loss more common
33
Q

Genetic causes of sensorineural hearing loss?

A

o Non-syndromic

o Syndromic

 Waardenburg syndrome (heterochromia)

 Alport syndrome (kidney malformations)

 Usher’s syndrome (retinitis pigmentosa)

 Pendred syndrome (goitre)

34
Q

Acquired causes of sensorineural hearing loss?

A

o Antenatal/Perinatal

 TORCH infections

 Hyperbilirubinaemia

 HIE

o Post-natal

 Drugs (Aminoglycosides, frusemide)

 Meningitis/Encephalitis

 Head injury

 Acoustic neuroma

35
Q

Causes of conductive hearing loss?

A
  • Otitis media with effusion (glue ear)
  • Wax
  • Congenital abnormalities

o Pierre Robin

o Treacher-Collins

o Cleft Palate

36
Q

Symptoms of sensorineural hearing loss?

A

o Usually present at birth

o Irreversible and can be profound

37
Q

Symptoms of conductive hearing loss?

A

o Associated URTI

o Episodes of hearing loss which resolve

o May last months/years

38
Q

Investigations in hearing loss? What does it test?

A
  • 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
Q

Assessment of hearing loss?

A
  • 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
Q

General measures in hearing loss?

A

o Provide support to develop signed or spoken communication

 Makaton simplified signing

o Child sit in front of class

41
Q

Management of sensorineural hearing loss?

A

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
Q

Management of conductive hearing loss?

A

o Medical

 Abx, decongestants

o Surgery

 Tympanostomy tubes (Grommets) with or without adenoid removal

o Hearing Aids

43
Q

Definition of developmental delay?

A

 Slow acquisition of all skills (global delay) or of one particular field (specific delay)

44
Q

Definition of developmental learning difficulty?

A

 Used in relation to children of school age and may be cognitive, physical or both

45
Q

Patterns of developmental delay?

A

o Slow but steady

o Plateau effect

o Regression

46
Q

When does global developmental delay present?

A
  • Global developmental delay presents usually in first 2 years of life
47
Q

Prenatal causes of developmental delay?

A
  • DS, FXS, mitochondrial disorders
  • Cerebral dysgenesis
  • Neurofibromatosis, TSC
  • TORCH infections
  • Occlusions, haemorrhage
  • Hypothyroidism, phenylketonuria
  • Alcohol and drug abuse
48
Q

Perinatal causes of developmental delay?

A

 HIE

 Extreme prematurity

 Hypoglycaemia, hyperbilirubinaemia

49
Q

Postnatal causes of developmental delay?

A
  • Meningitis, encephalitis
  • Suffocation, seizures
  • Head injury
  • Stroke
  • Cerebral palsy
50
Q

Symptoms of developmental delay?

A
  • Defects in 4 domains of development
  • Poor schooling, feeding, behaviour
51
Q

Conditions with delays in motor development?

A

o Cerebral palsy

52
Q

Conditions with delays in speech and language development?

A

o Hearing loss

o Cerebral palsy

o Cleft palate

o Environmental deprivation

o Include delay in language comprehension, expression Stammering, dysarthria, dyspraxia, pragmatics

53
Q

Conditions with delays in social skill development?

A

o ASD

54
Q

Investigations possible in developmental delay? (7)

A
  • Cytogenetic
  • Metabolic
  • Infection
  • Imaging
  • Neurophysiology
  • Hearing and vision tests
  • Cognitive assessments
55
Q

What cytogenetic tests can be done in developmental delay?

A

o Chromosome karyotyping, DNA FISH, Fragile X screen

56
Q

What metabolic tests can be done in developmental delay?

A

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
Q

What infective tests can be done in developmental delay?

A

o Congenital infection screen

58
Q

What imaging tests can be done in developmental delay?

A

o Cranial USS

o CT/MRI

o Skeletal survey

59
Q

What neurphysiology tests can be done in developmental delay?

A

o EEG, nerve conduction studies

60
Q

Management of developmental delay?

A
  • Treat underlying cause
  • Supportive help to function to best of their ability
  • Relative therapy to improve skills – SALT, physio, carers, etc

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