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Peadiatrics > Learning Behavoiural And Developmemtal Disorders > Flashcards

Learning Behavoiural And Developmemtal Disorders Flashcards

1
Q

2 most common causes of learning disability

A

Downs

Fragile X

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2
Q

Cause of fragile X

A

Expansion in triplet repeat in the FRAxA gene

FMR1

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3
Q

Physical Features of fragile X ? Who most common

A

Dysmorphic face - LARGE FOREHEAD, LONG FACE, LARGE EARS
Macrocephaly
Macro-ordidism (more common after pubity)

MALES

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4
Q

Non physical features of fragile X

A

Learning difficulty IQ 20-80

Autistic features and hyperactivity

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5
Q

How many triplet repeats in fragile X ? Normal vs carrier vs affected

A

N - 200

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6
Q

Fragile X maternal vs paternal carrier

A

Number of repeats amplified when main gene inherited from mother but not usually when from father

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7
Q

What is meant by a fragile X ‘normal transmitting male’

A

Unaffected make who have affected grandchildren though thier daughters

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8
Q

When is a behavioural disorder diagnosed

A

Children with persistent problematic antisocial behaviour

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9
Q

Main two types of behavioural disorders

A

Over activity - ADHD

Conduct disorder

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10
Q

Who has more conduct disorder

A

Boys 5x

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11
Q

Define conduct disorder

A

Disturbed and antisocial conduct well beyond the range of misbehaviour normally observed for that age group

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12
Q

What age can conduct disorder be diagnosed? What’s it called before that

A

7

Oppositional defiant disorder

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13
Q

Socialised vs unsocialised conduct disorder

A

Where the activities occur within a peer group or when the child acts in isolation

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14
Q

Features of conduct disorders with age

A

Pre school - aggressive behaviour & poor concentration
Mid childhood - lying, stealing, bullying, disruptive and oppositional behaviour
Adolescence - stealing, truancy, promiscuity, reckless, vandalism, substance misuse

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15
Q

Family and social factors associated with conduct disorder

A

Family - FHx, alcoholism, disputes, violence, large family, care in early life
Social - inner cities, deprivation & over crowding

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16
Q

Treatment and prognosis of conduct disorder

A

Family focused ‘teaching’ - Problem solving skills training

50% progress to antisocial PD

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17
Q

3 hallmarks of ADHD ? Other features

A

In attention
Hyperactivity
Impulsiveness

Present for 6/12, impaired functioning in 2+ settings, PERVASIVE and ONSET

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18
Q

What should be looked for in adhd examination

A

Developmental delay
Visual / hearing / learning difficulties
Dysmorphic

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19
Q

Aetiology of ADHD

A

Genetic - 70% heritability
Social deprivation
Maternal smoking / alcohol

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20
Q

Mainstay of ADHD treatment ? Why? How is it done ?

A

Behaviour modifying and educational
50% respond well
Structured environment, positive reinforcement, emphasising relaxation and self control

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21
Q

Pharmacological treatment of ADHD and side effects

A

Pyschostimulants - methylphenidate, atamoxetine
Modafanil

Insomnia, poor appetite and headaches

22
Q

2 types of developmental disorder

A

Pervasive

Specific

23
Q

What is a developmental disorder

A

Child seemingly normal until late infancy where point progress slows , stops or reverses

Thought to be due to aberrant brain development

24
Q

Egs of pervasive developmental disorders

A

Autistic spectrum disorder
Asperger’s syndrome
Rettes syndrome

25
Q

What characterises autism

A

Profound impairment of social interactions

26
Q

Usual gender / age at diagnosis of autism

A

80% boys

27
Q

What makes up the autistic triad

A

No emotional warmth - poor interaction, decreased eye contact
Impaired language and communication (delayed language and decreased comprehension)
Solitary, repetitive behaviours “steriotyped” (+lack of imaginative play )

28
Q

What conditions are autistic features found

A

Fragile X, tuberous sclerosis, untreated pheniketonuria

29
Q

What are comorbid features of autism

A 
Learning disability 
Epilepsy 
Mannerisms and rituals
Hyperactivity 
Anxiety and OCD like 
Sleep disturbance
30
Q

Aetiology of autism

A

Genetic - ?susceptibility genes (neuroligins 3&4). Microscopic structural abnormalities of chromosomes (copy number variation)

Psychological - failure to develop ‘theory of mind’ (ability to attribute mental states and beliefs to others)

31
Q

Investigations for autism

A

?other conditions

Hearing test, cytogenetics, imaging (TS / NF)

32
Q

Management of autism

A

Medical for any underlying eg epilepsy
Psychological - social skills, appropriate education

Family - support and education

33
Q

What is Asperger’s

A

Not mild autism.

Similar abnormalities in social communication & repetitive, isolated behaviours

34
Q

Features of Asperger’s

A

Male

Highly developed interests, verbal IQ>performance IQ, frequent clumsiness, socially approaching but may be inappropriate

35
Q

Differences from Asperger’s to autism

A

More insight into their thoughts / feelings
Greater desire to fit in
Cognitive but not empathetic understanding of social rules

36
Q

When is Asperger’s usually diagnosed

A

School (may present earlier )

37
Q

What is Rette’s syndrome ? In who?

A

Rare X linked almost exclusively in girls

38
Q

What happens in Rette’s

A

Following normal development after birth patient develops multiple defects

39
Q

Defects in Rette’s

A

Decreased head growth from 5-48months
Loss of acquired hand skills from 5-30 months (and development of sterotyped movements - hand wringing / washing)
Decreased interest in social activities
Impaired expressive and receptive language + psychomotor retardation

40
Q

How is Rette’s diagnosed

A

Sequencing of MECP2 gene mutations

41
Q

What is enuresis ? Who gets more ?

A

Urinary incontinence after the age at which bladder control is expected
Girls - 5, boys 6
Boys 3x

42
Q

Two types of enuresis

A

Primary - >5 and never continent for at least 3/12

Secondary - incontinent after prolonged period of bladder control

43
Q

Nocturnal vs diurnal enuresis

A

Nocturnal in first half of night (85%)
Diurnal - during day 5%
10% mixed

44
Q

Aetiology of enuresis

A

FHx

Recent stressors and emotional disorder

45
Q

Organic causes of enuresis (rare)

A

Uti, diabetes, neuropathic bladder, renal failure, sleep apnea, feacal retention causing bladder neck dysfunction

46
Q

Management of enuresis

A

Reassurance and limiting fluid intake in evening.
BEHAVIOURAL - star chart
DESMOPRESSIN. - synthetic ADH (intranasaly)

47
Q

What is a tic

A

Involuntary, rapid, spasmodic movement usually repeated blinking and grimacing

48
Q

Often precursor to tic

A

Emotional upset

Usually just benign and transient

49
Q

Tourette syndrome features

A

Tics accompanied by vocal grunts and sometimes stereotyped phrases or expletives (coprolalia)
OCD / ADHD symtoms often occur

50
Q

Treatment of Tourette’s

A

Mild cases - none

Troublesome can be controlled with low dose antipsychotics

Peadiatrics (14 decks)

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