autism, hyperkinetic, LD Flashcards
define autism
pervasive developmental disorder
ASOCAIL Behaviuor restrircted Communication TRIAD - impairment in social interaction - impairment in communication - restricted, stereotyped interests and behaviours.
prenatal aetiology autism
genetics - fragile X syndrome, tuberous sclerosis
parental age - 40 years old
Drugs - sodium valporate
infection - prenatal viral infections - rubella
perinatal aetiology autism
obstetic complications
hypoxia during childbirth
- gestational age at birth
- low birthweight offer increased risk of autism.
postnatal aetiology autism
toxins - lead and mercury
- pesticide exposure
RFs of autism
Male
Males are 4 × more likely to be affected than females.
Genetics/Family history
There is an 88% concordance rate in monozygotic twins, indicating a strong genetic component.
Advancing parental age
Recent studies have suggested that advancing parental age is a significant risk factor for ASD.
Parental psychiatric disorders
Evidence suggests a link between parental psychiatric disorders such as schizophrenia and the child having autism.
Prematurity
Born before 35 weeks’ gestation.
Maternal medication use
with mothers receiving sodium valproate during pregnancy.
clinicla features of autism as seen in ICD-10
ABC
Asocial
Few social gestures, e.g. waving, nodding and pointing at objects.
Lack of: Eye contact (gaze avoidance), social smile, response to name,
interest in others, emotional expression, sustained relationships and awareness of social rules.
Behaviour restricted
Restricted, repetitive and stereotyped behaviour, e.g. rocking and twisting.
Upset at any change in daily routine.
May prefer the same foods, insist on the same clothes and play the
same games.
Obsessively pursued interests.
Fascination with sensory aspects of environment.
Communication impaired
Distorted and delayed speech (often the first sign which is noticed).
Echolalia (repetition of words).
onset is before 3 years of age
other features
- intellectual disability
- temoer tantrums
- impulsivity
- cognitive imapirment
Social difficulties Communication difficulties Lack of flexibility of thinking Needs to occur in more than one environment
Symptoms must be present before 3 years
other conditions ass w autism
Epileptic seizures: ~20% develop this.
Visual impairment.
Hearing impairment.
Infections.
Pica: Eating inedible objects.
Constipation.
Sleep disorders.
Underlying medical conditions: PKU, fragile X,
tuberous sclerosis, congenital rubella, CMV or
toxoplasmosis.
Psychiatric: Hyperkinetic disorder, depression, bipolar
affective disorder, anxiety, psychosis, OCD, DSH.
Ix of autism
Full developmental assessment including family history, pregnancy, birth, medical history, developmental milestones, daily living skills and assessment of communication, social interaction and stereotyped behaviours
- hearing tests if required
- screening tools including CHAT
checklist for Autism in Toddlers
DDx of autism
Learning disability Deafness Childhood schizophrenia - Asperger’s syndrome* Rett’s syndrome* Childhood disintegrative disorder*
what is Aspergers syndrome
Similar
to autism with abnormalities in social interaction and restricted, stereotyped, repetitive interests and behaviours.
NO IMPAIRMENT
in language, cognition or intelligence (IQ normal). It is more prevalent in boys.
What is Rett’s syndrome
Severe, progressive disorder starting in early life. Results in language impairment, repetitive stereotyped hand movements, loss of fine motor skills, irregular breathing and seizures. Almost exclusively seen in girls. The MECP2 gene’s role in Rett’s syndrome has been identified.
what is childhood disintegrative disorder (Heller’s syndrome)
Characterized by two years of normal development followed by loss of previously learned skills (language, social
and motor). Also associated with repetitive, stereotyped interests and behaviours as well as cognitive deterioration.
speech and hearing developmental milestones
3 months turns towards sound, quietens
to parent’s voice.
6 months double syllables e.g. ‘adah’.
9 months says ‘mama’ and ‘dada’.
12 months knows and responds to own name.
12–15 months knows about 2–6 words,
understands simple commands.
2 years combines two words.
3 years talks in short sentences
(e.g. 3–5 words), asks ‘what?’ and ‘who?’
questions.
4 years asks ‘when?’, ‘how?’ and ‘why?’
questions.
social behaviour developmental milestones
6 weeks smiles (refer at 10 weeks if not smiling).
6 months enjoys interaction.
1 year waves bye-bye.
2 years interested in other children.
3 years make believe play.
4 years plays with other children.
general Mx of autism
diagnosis by specialist
local autism teams
Interventions for life skills include support developing their daily living skills, their coping strategies and enabling access to education and community facilities such as those related to leisure and sports.
Ensure all physical health, mental health and behavioural issues are addressed
Families and carers should also be offered personal, social and emotional support. Self-help
groups such as the National Autistic Society (NAS) are available.
- special schooling
- melatonin maybe for sleep disorders
core features
- social-communication intervention
bio-psychosocial Mx for autism
biological
Treat co-existing disorders (e.g. methylphenidate for hyperkinetic disorder).
Antipsychotics for behaviour that challenges.
Melatonin.
psychological
Psychoeducation for families or carers.
Full assessment of the functions of behaviour, to understand the child fully.
CBT.
Social Modification of environmental factors. Social-communication intervention. Self-help groups such as the National Autistic Society. Special schooling.
define ADHD
early onset, persistent pattern of inattention, hyperactivity and impulsivity that are more frequent and severe than in individuals at a comparable stage of development, and are present in more than one situation.
aetiology of ADHD
Genetic
- The DRD4 and DRD5 genes are thought to play a role.
Neurochemical - abnormality in the dopaminergic pathways
Neurodevelopmental - abnormalities of the pre-frontal cortex are hypothesized based on symptoms of recklessness, inattention and learning difficulties.
Social
- social deprivation
- family conflict
- prenatal cannabis and alcohol exposure
RFs of ADHD
age of onset 3-7 years
Male
Males are three times more likely to be affected than females.
Family history
Family history is a strong determinant of hyperkinetic disorder with twin studies reporting about 70% heritability.
Environmental risk factors
Social deprivation and family conflict as well as parental cannabis and alcohol exposure.
ICD-10 criteria for ADHS
A. Demonstrable abnormality of attention, activity and impulsivity at home, for the age and developmental level of the child.
B. Demonstrable abnormality of attention and activity at school or nursery (if applicable), for the age and developmental level of the child.
C. Directly observed abnormality of attention or activity. This must be excessive for the child’s age and developmental level.
D. Does not meet criteria for a pervasive developmental disorder, mania, depressive or anxiety disorder.
E. Onset before the age of 7 years.
F. Duration of at least 6 months.
G. IQ above 50.
- Poor attention and concentration
- Physical overactivity
- Impulsivity
- Needs to occur in more than one
environment - Diagnosis after 6 years, but symptoms
present before
define inattention
Not listening when spoken to.
Highly distractible (moving from one activity to the next).
Reluctant to engage in activities that require persistent mental effort, e.g. school work which contains careless mistakes.
Forgetting or regularly losing belongings.
define hyperactivity
Restlessness and fidgeting or
tapping with hands or feet.
Recklessness.
Running and jumping around in inappropriate places.
Difficulty engaging in quiet activities.
Excessive talking or noisiness.
define impulsivity
Difficulty waiting their turn. Interrupting others. Prematurely blurting out answers. Temper tantrums and aggression. Disobedient. Running into the street without looking.
Ix for ADHD
clinical
TFTs
hearing tests
rating scales - e.g. Conners’ rating scale and the Strengths and Difficulties questionnaire.
DDx for ADHD
Sleep disorders Mood disorders (particularly bipolar) Anxiety disorder Hearing impairment Conduct disorder - Learning disability/Dyslexia Oppositional defiant disorder Autism
what is conduct disorder
RFs
is a repetitive and severe pattern of antisocial behaviour including
- aggression
- destruction of property
- deceitfulness (or stealing)
- major violations of age-appropriate social expectations.
RFs - male abuse as a child - poor socioeconomic status - parental psychiatric disorders
- Lack of clear boundaries
- inconsistent parenting
- Rejection
Family conflict, especially witnessing violence
and aggression - Child temperament
- Comorbid learning or developmental difficulties
most common psych disorder of childhood
what is oppositional defiant disorder
defiant and disruptive behaviour against authoritative figures but is less severe than conduct disorder, in that violations of law and physical abuse of others are far less common.
Uncooperative, unwilling to comply with
requests, frequent temper tantrums
Wilful, defiant, may also be aggressive
aggression
Unless managed, tends to escalate
Mx pre-school ADHD
Parent-training and education programmes (psychoeducation) are first-line.
Parent-training is behavioural with parents being helped to reinforce positive behaviour and
to find alternative ways of managing disruptive behaviour.
mx for school goers ADHD
Psychoeducation and CBT (and/or social skills training) should be provided.
In severe hyperkinetic disorder in school-age children, drug treatment is first-line with the
CNS stimulant methylphenidate (Ritalin) being the usual choice.
Atomoxetine (and if this fails, dexamfetamine) is the alternative when methylphenidate has
been ineffective. Side effects should be monitored for.
Side effects of CNS stimulants include headache, insomnia, loss of appetite and weight loss.
define learning disability
state of arrested or incomplete development of the mind. It is characterized by impairment of skills manifested during the developmental period, and skills that contribute to the overall level of intelligence.
triad of LD
(1) Low intellectual performance (IQ below 70).
(2) Onset at birth or during early childhood. (3) Wide range of functional impairment including social handicap due to reduced ability to acquire adaptive skills (activities of daily living).
ICD-10 criteria for LD
Mild IQ = 50–70 (Mental age = 9–12) Moderate IQ = 35–49 (Mental age = 6–9) Severe IQ = 20–34 (Mental age = 3–6) Profound IQ = <20 (Mental age <3 years)
aetiology of LD genetic antenatal perinatal neonatal postnatal environmental Psychiatric
Genetic
Down’s syndrome, fragile X syndrome, Cri du chat, Prader–Willi, neurofibromatosis, tuberous sclerosis, Angelman syndrome, homocystinuria, galactosaemia (carbohydrate), phenylketonuria (protein), Tay–Sachs disease (lipid), hydrocephaly.
Antenatal Congenital infection (rubella, CMV, toxoplasmosis), nutritional deficiency, intoxication (alcohol, cocaine, lead), endocrine disorders (hypothyroidism, hypoparathyroidism), physical damage (injury, radiation, hypoxia), antepartum haemorrhage, pre-eclampsia.
Perinatal
Birth asphyxia, intraventricular haemorrhage, neonatal sepsis.
Neonatal
Hypoglycaemia, meningitis, neonatal infections, kernicterus.
Postnatal
Infection (e.g. meningitis, encephalitis), anoxia, metabolic (e.g. hypothyroidism, hypernatraemia), cerebral palsy.
Environmental
Neglect/non-accidental injury, malnutrition, socioeconomically deprived.
Psychiatric
Autism, Rett’s syndrome.
common physical disorders include in LD
motor disabilities (e.g. ataxia, spasticity), epilepsy, impaired hearing and/or vision and incontinence (faecal and urinary).
mild LD clinical features
moderate
severe
profound
Mild LD
Usually identified at a later age when the child starts school. They have adequate language abilities, social skills and self-care. There may be difficulties in academic work. Most live independently but may need some support in housing and employment.
Moderate LD
Able to communicate but language is limited. May need supervision for self-care but able to do simple work.
Severe LD
There is a marked degree of motor impairment. Little or no speech in early childhood but may eventually use simple communication. May be able to perform simple tasks under supervision. They may have associated physical disorders.
Profound LD
Severe motor impairment and severe difficulties in communication. Have little or no self-care. Frequently have physical disorders and require residential care.
what is downs syndrome
A genetic disorder (trisomy 21) characterized by LD, dysmorphic facial features and multiple structural abnormalities. It is the commonest cause of LD.
physical features of downs
Palpebral
fissure (up slanting), Round face
Occipital + nasal flattening
Brushfield spots (pigmented spots on iris)/Brachycephaly
Low-set small ears, Epicanthic folds
Mouth open + protruding tongue
Strabismus (squint)/Sandal gap deformity/Single palmar (Simian) crease
Medical problems of downs
(oesophageal/duodenal atresia,
Fig. 11.3.1: Typical facial features of a child with Down’s syndrome.
Hirschsprung’s, coeliac), hypothyroidism and haematological malignancies (AML, ALL),
increased incidence of Alzheimer’s.
heart defects (ventricular and atrial septal defects, ToF), hearing loss, visual disturbance (cataracts, strabismus, keratoconus),
what is fragile X syndrome
physcial features
medical problems
The second most common cause of LD. A sex-linked disorder with
developmental, physical and behavioural problems.
Physical features: Large, protruding ears, long face, high arched palate, flat feet, soft skin,
lax joints.
Medical problems: Mitral valve prolapse.
what is prader-willi
Due to a deletion of part of chromosome 15. Characterized by hypotonia and developmental delay as an infant, and obesity, hypogonadism and behavioural problems (compulsive eating, disruptive behaviour) in later years.
what is cri du chat
Caused by a partial deletion of chromosome 5. Those affected have a high-pitched cry like a cat. Low birth weight and feeding difficulties are also characteristic.
Ix for LD
Before birth: Amniocentesis, chorionic villus sampling, genetic testing and karyotyping.
For Down’s syndrome: Two methods, (1) Serum screening (β-hCG and pregnancy-associated plasma protein A) + nuchal translucency; (2) Quad test (β-hCG, α-fetoprotein, inhibin A, estriol).
After birth: Bloods: FBC (infection), TFTs (hypothyroidism), glucose (hypoglycaemia), serology (ToRCH infections). Brain imaging: CT head and/or MRI. IQ (intelligence quotient) test.
Mx of LD
A multidisciplinary approach is vital. Care is provided by a variety of health care professionals including a psychiatrist, speech and language therapist, specialist nurses, psychologist, occupational therapist, social worker and even teachers (for educational support).
The GP must be involved in the care of the individual as physical health problems are common. Treatment of co-morbid medical conditions and psychiatric problems is vital.
Antipsychotics can be used for challenging behaviour but are overused.
Behavioural techniques such as applied behavioural analysis, and positive behaviour support, as well as CBT can be used. Psychiatrists, mental health nurses and psychologists can support carers with these strategies.
Family education is essential and support should be offered through educational programmes and voluntary organizations.
Prevention can be attempted through genetic counselling and antenatal diagnosis.
RFs for child psychiatry
biological
- temperament
- genetic
- neurodevelopmental
- biochemical - teenagers cannabis
psychological
- attachment
- learning
- cognitive
- emotional
social
- trauma
- accident
- illness
- death
chronic adversity • Socio-economic • Parental mental illness • Parental loss • Family conflict –violence • Parenting • Abuse (physical, sexual, emotional) • Exposure to community violence
resilence - protective factors
Temperament Coping strategies Problem-solving Self-esteem Stability Secure relationships Friendships Achievement
GAD in children
Free floating anxiety
Fears of death, loss (of child or parents)
Somatic manifestations (nausea, abdominal pain, sickness, headaches, sweating, palpitations, tension)
Panic attacks (sudden onset, extreme fear, physical symptoms, faintness
Separation anxiety
Anxiety manifest upon separation (or threat of separation)
from attachment figures (usually parent, particularly
mother)
Somatic manifestations
Nightmares with separation themes
School refusal
axious goes away when their with their primary care givers
OCD in children
OBSESSIONAL THOUGHTS – intrusive persisting, awareness of
their illogicality, resistance to them (e.g. counting, urge to
wash hands or touch wood a certain number of times)
COMPULSIVE ACTIONS – related to the thoughts
PTSD in children
Persistently re-experiencing trauma
Avoidance of associated stimuli or numbing
of responsiveness
Increased arousal (sleep disturbance, irritability, poor concentration) - hypervigiliance
Mx of anxiety disorders in children
Behaviour therapy (systemic desensitisation, flooding, response prevention)
Psychotherapies (brief psychodynamic, family and
cognitive therapy)
Anxiolytics
depressive disorders in children
Low mood which is persistent but not necessarily
pervasive (ITS NOT THERE ALL THE TIME), anhedonia/ lower levels of enjoyment
The biological symptoms are not consistent
Can occur with anxiety symptoms, ideas of self harm
Mx of depressive disorders
CBT
antidepressants - fluoxetine
managing the underlying or comorbid problems
Mx of conduct/oppositional
- Consistent care and parenting
- Behavioural therapy
- School-based interventions
- Community interventions
