autism

Child psychiatry
Functional enuresis : is the repeated involuntary voiding of urine occurring after an age at
which continence is usual – most children achieve daytime and night-time continence by 3y. or 4
years , may be nocturnal or diurnal or both , for the diagnosis to be made , a child must exhibit a
developmental or chronological age of at least 5 years , duration of disorder is at least 3 months.
nocturnal enuresis is referred to as primary (no preceding period of continence) or
secondary.
Epidemiology
prevalence:
? 10% at 5 years
? 4% at 8 years
? 1% at 14 years
? M:F = 3:1
? the majority never reach child clinics
? daytime wetting is much less common
? occurs more frequently in boys.
Aetiology
1) Genetic
a) 70% of children with enuresis have a first degree relative who has been enuretic
b) concordance rates in MZ twins are 2x higher than in DZ twins
2) Psychological factors
a) rigid toilet training
b) negative or indifferent attitudes of parents
c) stressful events leading to anxiety in the child.
Associations
?Helman’s triangle (in childhood) is a good predictor of future violence:
1. bedwetting
2. firesetting
3. cruelty to animals
?nocturnal enuresis is associated with encopresis
Treatment
1) Reassurance : many young children improve after an explanation
2) Behavioural : restricting fluid before bedtime and star charts to reward success.
3) Enuresis alarm :
a)pad & bell’
b) requires six to eight weeks of treatment
c) a cure is defined as 14 nights of continual dryness
d) successful in 70-80% of cases, although 1/3 relapse within a year
e) poor success in:
i) children under the age of six
ii) children who are uncooperative
iii) mentally handicapped (takes longer)
iv) maternal anxiety
4) Tricyclic antidepressants
a) imipramine or amitriptyline (25-50 mg )
b) most bed-wetters improve initially, and about 1/3 recover completely
c) however, most relapse when treatment is stopped
5) Desmopressin
a) synthetic ADH
b) similar efficacy to tricyclic antidepressants
c) most relapse if treatment is stopped
d) side effects include rhinitis, nasal pain, nausea, and abdominal pain .
pervasive developmental disorder : include group of disorders characterized by
impaired reciprocal social interaction , aberrant language development and restricted behavioral
repertoire.
PDD typically emerge in young children before the age of 3 y. , and parents often become
concerned about a child by 18 months as language development dose not occur as expected .
DSM-IV categorizes PDD as follows :
- Autism.
- Asperger`s syndrome .
- Rette`s syndrome .
- Childhood disintegrative disorder.
- PDD-NOS.
Atypical autism and overactive disorder with MR and stereotyped movements are 2 disorders do
not appear in DSM-IV.
Childhood Autism :
This condition was described by Kanner (1943) who suggested the name infantile autism , the
term childhood autism is used in ICD-10 but autistic disorder is the term used in DSM-IV .
Kanner described four main features of autism:
1. autistic aloneness
2. delayed or abnormal speech
3. an obsessive desire for sameness
4. onset in the first two years of life
In both DSM-IV and ICD-10 , three kinds of abnormality are required to make the diagnosis of
autism :
1-abnormalities of social development .
2- abnormalities of communication.
3- restriction of interests and behavior.
Of these , the abnormalities of social development are the most specific to autism
Abnormal development is usually apparent before the age of 3y. . there are reports that early
signs of autism can be detected in infancy , e.g. absence of babbling and pointing by 12 months .
- Impaired social relationships :
a) as an infant the child was slow to smile, unresponsive and passive, with a
dislike of physical contact and affection
b) lack of empathy and cooperative play
c) failure to employ usual methods of non-verbal communication such as
indicating behaviors.
d) gaze avoidance ( absence of eye to eye contact ).
- Abnormalities of communication :
a) language acquisition is delayed and about 50% of cases never develop language
b) abnormalities include:
i) echolalia
ii) poor comprehension and use of gestures
iii) pronominal reversal (use of ‘you’ for ‘I’)
iv) abnormalities in intonation, rhythm and pitch .
- Restricted, repetitive and stereotyped patterns of behaviour, interests, and
activities:
a) rigid and restricted patterns of play
b) intense attachment to unusual objects
c) unusual preoccupations and interests
d) marked resistance to any change in the environment or daily routine.
- Cognitive abnormalities
a) majority are mentally retarded (70%)
b) only 5% have an IQ above 100 .
some autistic child have exceptional but restricted powers of memory or mathematical skills.
- Other associations :
a) epilepsy (25 % develop seizures around adolescence)
b) rubella
c) phenylketonuria
d) tuberose sclerosis
e) neurolipidoses
f) infantile spasm .
Epidemiology : Prevalence : 1 per 1000 , it is four times as common in boys as in girls .
Aetiology :
1) Genetic
a) higher concordance among MZ twins
b) condition is 50x more frequent in the siblings of affected persons
c) cognitive abnormalities are more common among the siblings of autistic parents
2) Organic brain disorder
a) increased rate of perinatal complications
b) increased brain serotonin levels
c) structural brain studies have established that autistic child have larger brain volumes than
normal children , FMRI : hypoactivation of the amygdale , frontal and temporal areas .
3) Abnormal parenting :Kanner initially suggested that autism was a response to cold,
detached, and obsessive parents
4) Theory of mind
a) by the age of 4, most children are able to form an idea of what others are
thinking
b) an autistic child lacks this appreciation of what information others possess and
what they are likely to be thinking.
Treatment
· counselling and advice to parents
· behavioural methods, including operant conditioning and shaping
· teaching of communication skills, involving both non-verbal and verbal methods –
known as total communication
· behavioral problems can treated with atypical antipsychotics .
- Anxiety , depression or self injury can be treated with SSRI .
- Stimulants may be of value in the treatment of hyperactivity.
Outcome
· some children(10-20%) show improvement after 5-6 years old.
.10-20% can live at home but can not work and need to attend a special school or training
center.
· the better the level of functioning early on, the better the outlook – an above
average non-verbal IQ and speech at age five are hopeful signs
· some useful speech is acquired by about 50 % of autistic children
· two-thirds of all autistic children remain severely handicapped in adult life
· only 15% are able to live independently.
Asperger`s syndrome :
This condition was first described by Asperger(1944) , the condition has also been
referred to as autistic psychopathy and is more common in boys than girls .
The children develop normally at first but by the third year begin to lack warmth in their
relationships .
This condition characterized by severe persistent impairment in social interactions ,
repetitive behavior patterns and restricted interests.
IQ and language are normal , no significant delays occur in language , cognitive
development or age appropriate self help skills.
The abnormalities usually persist into adult life , most people with the disorder can work ,
but few form successful relationships and marry .
Rett’s syndrome :
Is a rare x-linked condition which occurs almost exclusively in girls , the reported
prevalence 0.8/10000 girls .
Head circumference is normal at birth and developmental milestones are unremarkable in
early life .
Between 6 months to 2 years of age , head growth begins to decelerate and produces
microcephaly .
Other signs often include the loss of purposeful hand movements , which are replaced by
stereotypic motions , such as hand wringing , loss of previously acquired speech ,
psychomotor retardation and ataxia ..
Associated features include seizures in up to 75% of affected children .
Childhood disintegrative disorder ( Heller`s syndrome) :
Characterized by marked regression in several areas of functioning after at least 2 years
of apparently normal development .
There is normal development for 2-3 years , followed by a loss of acquired motor , and
social skills between ages 3 and 4 years .
It resembles childhood autism in the marked loss of cognitive functions , abnormalities of
social behavior and communications and unfavourable outcome , it differs from autism in
the loss of motor skills and of bowel and bladder control.
The main neurological associated feature is seizure disorder .
Male predominant , the cause is unknown , most patients are left with at least moderate
mental retardation .
Hyperkinetic disorder :
Hyperkinetic disorders are severe forms of overactivity associated with marked inattention ,
hence the widely used term attention-deficit hyperactivity disorder adopted in DSM-IV . in ICD-
10 the term is hyperkinetic disorder.
The cardinal features of this disorder are :
1. Extreme and persistent restlessness.
2. Sustained and prolonged motor activity.
3. Difficulty in maintaining attention .
4. Impulsiveness and difficulty in withholding responses.
Children with this disorder often reckless and prone to accidents , they may have learning
difficulties , many develop minor forms of antisocial behavior as the condition continues
, particularly disobedience , temper tantrums and aggression .
Diagnostic criteria :
In both ICD 10 and DSM-IV the cardinal features for the diagnosis of the disorder are
impaired attention , hyperactivity , and impulsiveness starting in childhood and lasting for
at least 6 months to a degree that is maladaptive and inconsistent with the developmental
level of the child .
The 2 systems differ in the details of the criteria for diagnosis :
1. ICD-10 requires that the symptoms started before 6 y. of age , DSM-IV specifies
before 7 y. of age.
2. ICD-10 requires both hyperactivity and impaired attention , DSM-IV requires
either inattention , or hyperactivity with impulsiveness.
3. ICD -10 requires that the criteria are met both at home and at school , whereas
DSM-IV requires only that they be present in one situation with impairment in
the other .
The results of these differences is that children who meet ICD-10 criteria are
more severely impaired than those who meet DSM-IV criteria .
In ICD-10 the disorder can be further classified as :
-disturbance of activity and attention .
- hyperkinetic conduct disorder.
Comorbidity: Conduct disorder , depressive disorder and learning disability .
Epidemiology:
- The prevalence of ADHD vary according to criteria used , using DSM-IV criteria the
prevalence 3-5% , using ICD-10 criteria the prevalence 1.7% was found .
- M:F=3:1 .
Aetiology of hyperkinetic syndrome :
1) Genetic : higher concordance in MZ twins than in DZ twins .
2) Neuroimaging studies show functional abnormalities in the prefrontal and
other areas associated with executive function and the cerebellum.
3) Neurodevelopmental abnormality : hyperactivity associated with:
i) low IQ
ii) clumsiness
iii) language delay
iv) abnormalities of speech
v) perinatal complications
4) Other associations
a) postulated link with food additives .
b) links with lead poisoning and zinc deficiency .
treatment :
- Support and psychological treatment .
- Medications : stimulant drugs should be tried when there is severe restlessness and attention
deficit .
Theses drugs increase dopamine and noradrenaline activity , the most commonly
prescribed medication is metylphenidate , side effects include anorexia, insomnia,
reduced growth rate, and labile moods.
The noradr. Reuptake inhibitor ( atomoxetine ) has also been licensed for the treatment of
hyperkinetic disorder , side effects include : nausea , abd. Pain , loss of appetite and sleep
disturbance , rarely ( about 1 in 50000 ) severe liver damage can occur.
prognosis : overactivity usually lessens gradually as the child grows older .
the prognosis of any associated learning difficulties is less good , whilst antisocial
behavior has the worst outcome .
when the overactivity is severe and is accompanied by learning failure or associated with
low intelligence , the prognosis is poor and the conditions may persist into adult life ,
usually as antisocial behavior or drug misuse rather than continued overactivity .