Learning Behavoiural And Developmemtal Disorders Flashcards
2 most common causes of learning disability
Downs
Fragile X
Cause of fragile X
Expansion in triplet repeat in the FRAxA gene
FMR1
Physical Features of fragile X ? Who most common
Dysmorphic face - LARGE FOREHEAD, LONG FACE, LARGE EARS
Macrocephaly
Macro-ordidism (more common after pubity)
MALES
Non physical features of fragile X
Learning difficulty IQ 20-80
Autistic features and hyperactivity
How many triplet repeats in fragile X ? Normal vs carrier vs affected
N - 200
Fragile X maternal vs paternal carrier
Number of repeats amplified when main gene inherited from mother but not usually when from father
What is meant by a fragile X ‘normal transmitting male’
Unaffected make who have affected grandchildren though thier daughters
When is a behavioural disorder diagnosed
Children with persistent problematic antisocial behaviour
Main two types of behavioural disorders
Over activity - ADHD
Conduct disorder
Who has more conduct disorder
Boys 5x
Define conduct disorder
Disturbed and antisocial conduct well beyond the range of misbehaviour normally observed for that age group
What age can conduct disorder be diagnosed? What’s it called before that
7
Oppositional defiant disorder
Socialised vs unsocialised conduct disorder
Where the activities occur within a peer group or when the child acts in isolation
Features of conduct disorders with age
Pre school - aggressive behaviour & poor concentration
Mid childhood - lying, stealing, bullying, disruptive and oppositional behaviour
Adolescence - stealing, truancy, promiscuity, reckless, vandalism, substance misuse
Family and social factors associated with conduct disorder
Family - FHx, alcoholism, disputes, violence, large family, care in early life
Social - inner cities, deprivation & over crowding
Treatment and prognosis of conduct disorder
Family focused ‘teaching’ - Problem solving skills training
50% progress to antisocial PD
3 hallmarks of ADHD ? Other features
In attention
Hyperactivity
Impulsiveness
Present for 6/12, impaired functioning in 2+ settings, PERVASIVE and ONSET
What should be looked for in adhd examination
Developmental delay
Visual / hearing / learning difficulties
Dysmorphic
Aetiology of ADHD
Genetic - 70% heritability
Social deprivation
Maternal smoking / alcohol
Mainstay of ADHD treatment ? Why? How is it done ?
Behaviour modifying and educational
50% respond well
Structured environment, positive reinforcement, emphasising relaxation and self control
Pharmacological treatment of ADHD and side effects
Pyschostimulants - methylphenidate, atamoxetine
Modafanil
Insomnia, poor appetite and headaches
2 types of developmental disorder
Pervasive
Specific
What is a developmental disorder
Child seemingly normal until late infancy where point progress slows , stops or reverses
Thought to be due to aberrant brain development
Egs of pervasive developmental disorders
Autistic spectrum disorder
Asperger’s syndrome
Rettes syndrome
What characterises autism
Profound impairment of social interactions
Usual gender / age at diagnosis of autism
80% boys
What makes up the autistic triad
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 )
What conditions are autistic features found
Fragile X, tuberous sclerosis, untreated pheniketonuria
What are comorbid features of autism
Learning disability Epilepsy Mannerisms and rituals Hyperactivity Anxiety and OCD like Sleep disturbance
Aetiology of autism
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)
Investigations for autism
?other conditions
Hearing test, cytogenetics, imaging (TS / NF)
Management of autism
Medical for any underlying eg epilepsy
Psychological - social skills, appropriate education
Family - support and education
What is Asperger’s
Not mild autism.
Similar abnormalities in social communication & repetitive, isolated behaviours
Features of Asperger’s
Male
Highly developed interests, verbal IQ>performance IQ, frequent clumsiness, socially approaching but may be inappropriate
Differences from Asperger’s to autism
More insight into their thoughts / feelings
Greater desire to fit in
Cognitive but not empathetic understanding of social rules
When is Asperger’s usually diagnosed
School (may present earlier )
What is Rette’s syndrome ? In who?
Rare X linked almost exclusively in girls
What happens in Rette’s
Following normal development after birth patient develops multiple defects
Defects in Rette’s
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
How is Rette’s diagnosed
Sequencing of MECP2 gene mutations
What is enuresis ? Who gets more ?
Urinary incontinence after the age at which bladder control is expected
Girls - 5, boys 6
Boys 3x
Two types of enuresis
Primary - >5 and never continent for at least 3/12
Secondary - incontinent after prolonged period of bladder control
Nocturnal vs diurnal enuresis
Nocturnal in first half of night (85%)
Diurnal - during day 5%
10% mixed
Aetiology of enuresis
FHx
Recent stressors and emotional disorder
Organic causes of enuresis (rare)
Uti, diabetes, neuropathic bladder, renal failure, sleep apnea, feacal retention causing bladder neck dysfunction
Management of enuresis
Reassurance and limiting fluid intake in evening.
BEHAVIOURAL - star chart
DESMOPRESSIN. - synthetic ADH (intranasaly)
What is a tic
Involuntary, rapid, spasmodic movement usually repeated blinking and grimacing
Often precursor to tic
Emotional upset
Usually just benign and transient
Tourette syndrome features
Tics accompanied by vocal grunts and sometimes stereotyped phrases or expletives (coprolalia)
OCD / ADHD symtoms often occur
Treatment of Tourette’s
Mild cases - none
Troublesome can be controlled with low dose antipsychotics
