Developmental Delay Flashcards

1
Q

Definition of developmental delay

A

Failure to attain appropriate developmental milestones for child’s corrected chronological age

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2
Q

What are the 3 main patterns of abnormal development?

A

Delay (global or specific), deviation (autism) or regression (Rett’s or metabolic)

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3
Q

What are the red flags for development?

A
  • Asymmetry of movement
  • Not reaching for objects by 6 months
  • Unable to sit unsupported by 12 months
  • Unable to walk by 18 months → check CK
  • No speech by 18 months
  • Concerns re vision or hearing
  • Loss of skills
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4
Q

Global development delay

A

Significant delay in 2+ of gross/fine motor, speech/language, cognition, social/personal, ADL (termed learning difficulty in school age)

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5
Q

What are examples of specific developmental delays?

A
  • Motor Delays eg Duchenne Muscular Dystrophy, Cerebral Palsy, Co-ordination disorders
  • Language Delays eg Specific Language Impairment
  • Sensory Deficits and Associated Delay eg Oculocutaneous Albinism, Treacher-Collins
  • Developmental Deviations eg Autism Spectrum disorders
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6
Q

What is the autistic triad?

A
  • Communication
  • Social interaction
  • Flexibility of thought/ Imagination (lack of)
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7
Q

What are the characteristics of autism?

A
  • Communication
    • Receptive Language - Expressive>Receptive (they can recite a lot of language but not understand it)
    • Abstract language difficult – can take things very literally
    • Expressive Language- Odd intonation/pitch – no change in pitch
    • Non-verbal language - find eye contact challenging
    • Lack of awareness of reciprocal nature of conversation – unaware if you aren’t interested
  • Social Interaction
    • Joint Attention and Referencing - normal children will be pointing to something on a shelf and making sure mum is looking
    • Social rules – personal space, offense
    • Empathy – aren’t in tune with peoples emotions
  • Flexibility of thought/imagination
    • Concrete and literal
    • Like Routines – because routine is predicatble
    • Changes in environment – too much noise or over stimulating and they cant cope
  • Sensory issues
    • Fussy eater/ medications
    • Textures of clothes
    • Noise
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8
Q

What should be done in an examination of developmental delay?

A
  • Observation – how are they behaving, moving, any asymmetry
  • Dysmorphism
  • Head Circumference
  • Systems
  • CNS inc neurocutaneous, look at skin and gait
  • Vision and Hearing
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9
Q

What investigations should be done with developmental delay?

A

First line:

  • Creatinine Kinase (looking for DMD)
  • TFT’s, U+Es, LFTs, FBC
  • Bone age
  • Chromosomes
  • FRAX (fragile X)

Second line:

  • Oligoarray CGH
  • Neonatal PKU
  • Thyroid studies
  • If indicated:
    • MRI brain
    • EEG (electroencephalogram)
    • Metabolic studies
    • Genetic consultation
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10
Q

What is involved in the therapy of developmental delay?

A

Early intervention!

  • Therapy
  • Physio
  • SLT – speech and language therapy
  • OT
  • Family Support
  • Educational Placement
  • Referral to Other Agencies
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11
Q

What are some of the characteristics of Down’s Syndrome?

A
  • Congenital heart defects
  • Vision problems, particualrly with focus
  • Hearing – skull is slightly flattened which affects the developement of ENT
  • Underactive thyroid
  • Sleep related breathing disorders – underlying anatomy, sleep apnoea
  • Shorter stature
  • Weight gain
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12
Q

Which gait is associated with Duchenne’s Muscular Dystrophy?

A

Lordotic gait (shoulder bending backwards due to weakness of the pelvic girdle)

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13
Q

What is Gower’s Manouvre and what is it associated with?

A

Associated with Duchenne’s Muscular Dystrophy, due to weakness in pelvic girdle, when getting up from the floor they push up with their hands and then up.

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14
Q

What gait is associated with cerebral palsy?

A

Spastic diplegic gait (dragging toes and knees together)

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15
Q

Occulocutaneous albinism

A
  • Reduced pigment in the iris and retina.
  • Pale eyes.
  • Very photophobic and struggle to be out in bright light.
  • Often have staggers (rapid involuntary eye movements).
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16
Q

Treature Collins Syndrome

A

Problems with the development of the facial bones, sometimes a cleft palate as well.

Results in conductive hearing loss.

17
Q

What does conductive and sensorineural hearing loss audiograms look like?

A
18
Q

Definition of intellectual disabilities?

A

Impairment of general mental abilities that impact adaptive functioning in three domains:

  • Conceptual (ability to learn)
  • Social (ability to interact)
  • Practical (ability to carry out tasks)
19
Q

Genetic short stature

A

Healthy, well child who has inherited short stature from parents. No underlying endocrine abnormality and normal bone age.

20
Q

Constitutional growth delay

A
  • Late maturation causing short stature.
  • Cause usually unknown.
  • May be genetic short stature component.
  • Tends to present around puberty with delayed onset.
  • Children have delayed maturation and delayed bone age.
21
Q

What are causes of short stature?

A
  • Genetic short stature
  • Constitutional growth delay
  • Dysmorphic syndromes
  • Chronic diseases (use up energy intended for growth)
  • Endocrine causes
  • Psychosocial causes
22
Q
A