Learning Behavoiural And Developmemtal Disorders

Question 1

2 most common causes of learning disability

Answer 1

Downs

Fragile X

Question 2

Cause of fragile X

Answer 2

Expansion in triplet repeat in the FRAxA gene

FMR1

Question 3

Physical Features of fragile X ? Who most common

Answer 3

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

MALES

Question 4

Non physical features of fragile X

Answer 4

Learning difficulty IQ 20-80

Autistic features and hyperactivity

Question 5

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

Answer 5

N - 200

Question 6

Fragile X maternal vs paternal carrier

Answer 6

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

Question 7

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

Answer 7

Unaffected make who have affected grandchildren though thier daughters

Question 8

When is a behavioural disorder diagnosed

Answer 8

Children with persistent problematic antisocial behaviour

Question 9

Main two types of behavioural disorders

Answer 9

Over activity - ADHD

Conduct disorder

Question 10

Who has more conduct disorder

Answer 10

Boys 5x

Question 11

Define conduct disorder

Answer 11

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

Question 12

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

Answer 12

7

Oppositional defiant disorder

Question 13

Socialised vs unsocialised conduct disorder

Answer 13

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

Question 14

Features of conduct disorders with age

Answer 14

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

Question 15

Family and social factors associated with conduct disorder

Answer 15

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

Question 16

Treatment and prognosis of conduct disorder

Answer 16

Family focused ‘teaching’ - Problem solving skills training

50% progress to antisocial PD

Question 17

3 hallmarks of ADHD ? Other features

Answer 17

In attention
Hyperactivity
Impulsiveness

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

Question 18

What should be looked for in adhd examination

Answer 18

Developmental delay
Visual / hearing / learning difficulties
Dysmorphic

Question 19

Aetiology of ADHD

Answer 19

Genetic - 70% heritability
Social deprivation
Maternal smoking / alcohol

Question 20

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

Answer 20

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

Question 21

Pharmacological treatment of ADHD and side effects

Answer 21

Pyschostimulants - methylphenidate, atamoxetine
Modafanil

Insomnia, poor appetite and headaches

Question 22

2 types of developmental disorder

Answer 22

Pervasive

Specific

Question 23

What is a developmental disorder

Answer 23

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

Thought to be due to aberrant brain development

Question 24

Egs of pervasive developmental disorders

Answer 24

Autistic spectrum disorder
Asperger’s syndrome
Rettes syndrome

Question 25

What characterises autism

Answer 25

Profound impairment of social interactions

Question 26

Usual gender / age at diagnosis of autism

Answer 26

80% boys

Question 27

What makes up the autistic triad

Answer 27

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 )

Question 28

What conditions are autistic features found

Answer 28

Fragile X, tuberous sclerosis, untreated pheniketonuria

Question 29

What are comorbid features of autism

Answer 29

``` Learning disability Epilepsy Mannerisms and rituals Hyperactivity Anxiety and OCD like Sleep disturbance ```

Question 30

Aetiology of autism

Answer 30

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)

Question 31

Investigations for autism

Answer 31

?other conditions | Hearing test, cytogenetics, imaging (TS / NF)

Question 32

Management of autism

Answer 32

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

Question 33

What is Asperger's

Answer 33

Not mild autism. | Similar abnormalities in social communication & repetitive, isolated behaviours

Question 34

Features of Asperger's

Answer 34

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

Question 35

Differences from Asperger's to autism

Answer 35

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

Question 36

When is Asperger's usually diagnosed

Answer 36

School (may present earlier )

Question 37

What is Rette's syndrome ? In who?

Answer 37

Rare X linked almost exclusively in girls

Question 38

What happens in Rette's

Answer 38

Following normal development after birth patient develops multiple defects

Question 39

Defects in Rette's

Answer 39

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

Question 40

How is Rette's diagnosed

Answer 40

Sequencing of MECP2 gene mutations

Question 41

What is enuresis ? Who gets more ?

Answer 41

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

Question 42

Two types of enuresis

Answer 42

Primary - >5 and never continent for at least 3/12 | Secondary - incontinent after prolonged period of bladder control

Question 43

Nocturnal vs diurnal enuresis

Answer 43

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

Question 44

Aetiology of enuresis

Answer 44

FHx | Recent stressors and emotional disorder

Question 45

Organic causes of enuresis (rare)

Answer 45

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

Question 46

Management of enuresis

Answer 46

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

Question 47

What is a tic

Answer 47

Involuntary, rapid, spasmodic movement usually repeated blinking and grimacing

Question 48

Often precursor to tic

Answer 48

Emotional upset | Usually just benign and transient

Question 49

Tourette syndrome features

Answer 49

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

Question 50

Treatment of Tourette's

Answer 50

Mild cases - none | Troublesome can be controlled with low dose antipsychotics