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)

(INTELLECTUAL DEVELOPMENTAL DISORDER)

GLOBAL DEVELOPMENTAL DELAY

 Mental Retardation ( MR )
Intellectual Disability (ID)
Diagnostic Criteria from DSM-V:

 Significantly sub-average general intellectual functioning

(IQ < 70),
 Limitation in two or more adaptive skills:
- communication,
- self direction,
- self-care,
- social skills,
- health and safety,
- leisure
- and work
 Manifests before age of 18 years

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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.

Usually have others disorders :

- vision, hearing, orthopedic, behavioral /
emotional disorders, and dysmorphisme.

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 Diagnosis
 ~ Diagnostic Criteria from DSM-V,
 Tests of intelligence and adaptive functioning
Intelligence tests :

IQ (intelligence quotient) = Mental Age X 100

Chronological Age

- Bayley Scales of infant Development (BSID)

- the Stanford – Binet Intelligence Scale,
- Wechsler Intelligence Scales,

 Adaptive test : Vineland Adaptive Behavior Scale

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Gesell Drawing Test : Mental Ages

15 Months … Spontaneous Scribble

18 Months … Vertical Line

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,

Intelligence Quatient (IQ) in patient with DS varies from

20 to 80, being mostly between 45 and 55.

Ocular findings in px with trisomy 21 include the

following: blepharitis, conjunctivitis, prominent
epicanthal folds, upward slanting of palpebral fissures,
nasolacrimal duct obstruction,

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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.

The maternal serum markers used to

screen for trisomy 21 are alpha-fetoprotein,
unconjugated estriol and human chorionic
gonadotropin.

The use of ultrasound to estimated

gestational age improves the sensitivity and
specificity of maternal serum screening.
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Mortality/Morbidity:
Patients with DS have a shortened life expectancy,
- about one third of patients die within the first
year,
- and one half of patients die by 4 years.
- The remainder of patients has a reduced life
expectancy as compared to the general
population.
Congenital heart disease is the major cause of
morbidity and early mortality.
Recurrent respiratory infections, epilepsy, intestinal
obstruction, and leukemia may affect these patients.

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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.

Mental Retardation is common in patients

with trisomy 21; however, patients with
mosaicism have higher IQ.

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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