Iga Endahardjana, SPKJ (K)
Iga Endahardjana, SPKJ (K)
Iga Endahardjana, SPKJ (K)
MENTAL
RETARDATION
RETARDATION
I Gusti Ayu Endah Ardjana
Department of Psychiatry
Faculty of Medicine University of Udayana,
Denpasar
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INTELLECTUAL DISABILITY (ID)
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Classification (1)
Based on IQ test score : Adult
- Mild : 50– 70 ~ 9 – 12 yr
- Moderate : 35– 49 ~ 6 – 9 yr
- Severe : 20– 34 ~ 3 – 6 yr
- Profound : below 20 ~ < 3 yr
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Associated Problems
Cerebral palsy
Vision, hearing, orthopedic, and dysmorphisme.
Learning problems: attention, language, memory.
Behavioral / emotional problems : motivation, self
– regulation, social interaction, hyperactivity.
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Etiology
Biologic
Genetic ( cognitive impairment )
Socio-economic (poverty, undernutrition,
understimulation )
Mixed
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Epidemiology
ID= 1 - 2 % of population
Mild ID 85 % ( 2,1 % of population )
– boys : girls = 2 : 1
Severe ID appr, 0.3 – 0.5 % of the population,
- boys : girls = 1.5 : 1
a consequence of X – linked disorders.
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Early Diagnosis ( 1 )
Newborn, we have to concern when
- dysmorphisme
- mayor organ system dysfunction ( feeding and breathing )
Early infancy ( 2-4 mo ), we have to be suspicious when
- failure to interact with the environment,
- lack of visual or auditory responsiveness,
- unusual muscle tone or posture,
- and feeding difficulties.
6 and 18 mo of age,
- motor delay ( lack of sitting, crawling, walking )
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Early Diagnosis ( 2 )
2 – 3 year : Language delay
3 – 5 year :
- behavior problems ( including play )
- delays in fine motor skills
( cutting, coloring, drawing )
School age :
- academic underachievement
- behaviour difficulties ( attention, anxiety, mood,
and conduct disorders )
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Early Diagnosis ( 3 )
Parental concerns should be listened carefully
- some of their observations as accurate as
developmental screening tests.
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Diagnosis
~ Diagnostic Criteria from DSM-V,
Tests of intelligence and adaptive functioning
Intelligence tests :
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Gesell Drawing Test : Mental Ages
3 Years … Circle
4 Years … Cross
5 Years … Square
6 Years … Triangle
7 Years … Diamond
The principles of ID management
The role of the pediatrician/psychiatrist
- early diagnosis,
- identification of associated deficits,
- interdisciplinary management
- provision of primary care, and advocacy for
the child and family.
The management strategies
- multi-modal : health, education, social and
recreational activities, behavior problems, and
associated impairments.
- Support for parents and siblings
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The principles of ID management
Family involvement
. The family should be an integral part of
the planning and direction of this process
. Care should be family centered and
culturally sensitive.
Older child
. should be involved in planning and
decision making.
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Medication
Not useful, to improve intellectual function,
Helpful, in treating associated behavioral and
psychiatric disorders.
Psychopharmacology
- at specific symptom
- ADHD, self-injurious behavior,
aggression, anxiety and depression.
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Family counseling
Some families have emotional / social difficulties
Higher risk of parental depression and child abuse and neglect
Factors associated
- good family coping
- good parenting skills
- stability of marriage
- self-esteem
- limited number of siblings
- higher socioeconomic status
- lower degree of disability/associated impairments.
- appropriate parental expectations and acceptance
- supportive extended family members
- and availability of community programs and care services.
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Outcome
Depends on
- underlying cause,
- degree of cognitive and adaptive deficits,
- presence of associated medical and
developmental impairments,
- capabilities of the families
- school / community supports
- services and training provided to the child and
family
During school years
- develop sufficient adaptive behavior skills
- as the effects of maturation and plasticity of the brain.
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DOWN SYNDROME
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DOWN SYNDROME (DS)
DS is the trisomy of chromosome 21, the
most common trisomy among live
births.
The syndrome was named after Langdon
Down, who first coined the term
mongolism because of the mongoloid
facial appearance of the patients.
Patient features also include mental
retardation and short stature.
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Epidemiology:
In all areas of the world
All racial groups
the incidence rate is 1 per 600 – 700 live births.
Sex:
The male to female ratio is increased
(approximately 1.15 : 1) in newborns with DS.
The effect is restricted to free trisomy 21.
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Age:
Occurrence strongly depends on maternal age.
Risk for recurrence of DS in a patient’s siblings also is inherent
to maternal age.
- For young mothers, risk of a free trisomy is 1–2%
- For mothers aged 20 years or younger,
occurrence is 1 per 2000 births.
- Risk increases considerably for mothers aged 35
years 1 per 365 live births.
- in mothers aged 45 years or older, occurrence
is 1 per 30 live births.
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Physical:
Eight or more of the characteristic clinical findings
lead to a definite diagnosis.
Px have characteristic craniofacial findings, i.e.
- flat occiput and flattened facial appearance.
Px have short limbs, short and broad hands, and
short fifth middle phalanx.
Anteriorly and posteriorly flattened head with
dysplastic ears, small nose, depressed nasal
bridge, protruding tongue, high-arched palate,
dental abnormalities, shortened extremities,
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Physical (2)
Simian palmar creases, dry skin, joint hyperextensibility
or hyperflexibility, neuromuscular hypotonia, premature
aging,
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Physical (3)
Ocular
chronic external infections,
high refractive errors,
strabismus (up to 20%),
nystagmus,
keratoconus, keratoglobus,
Brushfield spots (up to 90%),
cataracts,
glaucoma and retinovascular anomalies.
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Etiology chromosome abnormalities
1. Genetic
2. Radiation
3. Infectious disease
4. Autoimmunity
5. Maternal age
6. Other factors, such as intragametic
accidents, factors relating to satellite
association and nucleolar organizers,
chemicals.
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Genetic:
Various chromosomal abnormalities may lead to DS,
including :
- free trisomy 21 (94%)
- translocation (4%)
- mosaicism (2%)
A free trisomy 21 results from non disjunction during
meiosis in one of the parents.
This occurrence is correlated with advanced maternal and
paternal age.
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Trisomy 21
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Prenatal risk assessment and diagnosis:
DS (trisomy 21) is the most commonly recognized
genetic cause of mental retardation.
The risk of trisomy 21 is directly related to maternal age.
All forms of prenatal testing for DS must be voluntary.
A nondirective approach should be used when
presenting patients with options for prenatal screening
and diagnostic testing.
Patients who will be 35 years or older on their due date
should be offered chorionic villus sampling or second –
trimester amniocentesis.
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Women younger than 35 years should be
offered maternal serum screening at 16 to 18
weeks of gestation.
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Consultations:
Because of frequent congenital heart malformation,
early cardiology consultation is needed. Early cardiologic
evaluation is crucial for diagnosing and treating
congenital heart defects, which occur in up to 60% of
these patients.
Due to recurrent respiratory tract infections, a pediatric
pneumologist also should manage patients with DS.
A child Psychiatrist should lead liaison interventions,
family therapies, and psychometric evaluations.
Up to 10% of patients with DS have epilepsy: therefore,
neurological evaluation is needs.
Genetic counseling is indicated.
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Prognosis:
Patients have a shortened life expectancy.
Early evaluation, diagnosis, and intervention
may prevent deaths due to congenital heart
defects.
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Patient Education:
Early stimulation therapy may benefit patients
with DS.
Patients may benefit from education programs.
Psychometric studies and social worker
intervention are needed for special education
planning.
Risk of recurrence for the patient’s child is 50%.
The advocacy efforts of patients with DS and
their families have resulted in huge
improvements in life quality and expectancy.
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THANK YOU