mental retardation

Dr Hussein Abdeldayem
Prof of Pediatric
Neurology
Mental
retardation

Investigation
s
 Intelligence quotient
(IQ) assessment =
mental age /
chronological age X
100
STANFORD BINNET
TEST
WESCHLER TEST

Investigation (cont.)
 Delay speech: Hearing assessment
 thyroid functions (T4, TSH
 Chromosomal study
 Brain CT &/or MRI
 Urine: screening for organic acids and amino
acids, mucoplysacharides
 Blood: phenylalanine, lactic acid, ammonia,
aminoacids

DD
Language disorder
Autism
Learning disability
Cerebral palsy
ADHD
Visual or hearing impairment
Degenerative disorders
Pseudo MR

MR diagnosis:
1- 1sr 3 years: Global Development Delay
2- preschool and school: Failure of academic
achievement
3-Abnormal behavior or association: as
hyperkinesia, self-injurious behavior, epilepsy

The associated deficits with MR
Epilepsy
Sensory deficits (e.g., Hearing Loss or visual troubles as squint or
blindness),
Communication disorders , autistic like features,
Hyperkinesia, Attention Deficit Disorders
Behavior disorders as aggressiveness, and self injurious behavior,
Feeding problems, teeth problem.
Cerebral palsy

EARLY SYMPTOMS “HISTORY”
 1- excessive irritability
 2-sleeping difficulties
 3-feeding problems
 4-jittery or jumpy
 5- easily startled
 6- stiffness when handled
 7-paradoxical “precocious” development

IQ ≤70
Classification of MR
Severity IQ
Mild MR <70-50
Moderate MR <50-35
Severe MR <35-20
Profound MR <20

N IQ: 85 -110
 IQ between 71 – <85 :
border line
(slow learner) (
below average) ‫تعلم‬ ‫بطء‬

The causes of MR
 GENETIC CAUSES:
 Acquired:
 IDIOPATHIC

The causes of MR
 GENETIC CAUSES:
1- hereditary: AR, AD, AR
2- chromosomal: DS
3- syndrome and brain dysgenesis
 Acquired:
1- prenatal
2- perinatal
3- postnatal (acquired)
 IDIOPATHIC

TREATMENT
Early intervention
Rehabilitation
tt of association

Early Intevention Programs
(EIP
 BRAIN
PLASTICITY
Management

 all of the following are FALSE about mental
retardation except one:
1-IQ is less than 60
2- IQ is less than 70
Question

 the following cases are mental retardation that
can be diagnosed from face features, except
one:
1- Down syndrome
2- microcephaly
3- mucopolysaccharidoses
4- congenital hypothyroidism
5- cerebral palsy
Question

 9 months baby only coo, can’t sit, with
sissoring and increased deep tendon reflexes,
social smile. What is ur diagnosis?
Question
early spastic CP with global developmental delay

 9 months baby with ability to hold things
between thumb and index , say dada and papa
, able to crawl. Parents are anxious . what is
ur opinion?
Question
Assure the parent. He is a normal child
as regard his developmental milestones
achievement

 3 causes of preventable MR,
how to detect and
their preventable measures
Question
Congenital Hypothyroidism
PKU
Galactosemia

By
Abdul Rahman bin Saad (60)
Abdul Rahim bin Ramdzan (61)
Abdul Rahim bin Suhaini (62)
Prevention of Mental Retardation

Prevention of Mental Retardation
Presentation
Prepared by
Abdul Rahman bin Saad (60)
Abdul Rahim bin Ramdzan (61)
Abdul Rahim bin Suhaini (62)
Abdul Rashid bin Abdul Ghani (63)
Ezza Syuhaida binti Zakaria (64)

Primary Prevention
Abdul Rahman Bin Saad 60

Alex University
Prevention
 Primary Prevention
 Secondary Prevention
 Tertiary Prevention
 Quaternary Prevention

Alex University
Prevention
 Primary Prevention
prevent the occurrence of the disease
as: by immunization
by Genetic counseling
NO DISEASE
AR disorders
Infectious Disease as MMR, polio, etc

Alex University
Prevention
 Secondary Prevention
early detection of the disease for stopping or
reversing its progress
as: by prenatal diagnosis
by newborn screening
DISEASE
NO or MILD CP
PKU, Cong Hypothyroidism, Galactosemia

Alex University
Prevention
 Tertiary Prevention
stop the development of
complication of the previously
diagnosed disease
as: by EIP,
by treating ABM with
corticosteroid AND follow up for
complications (ABR)
DISEASE
NO Complication
EIP,
ABM

Alex University
Prevention
 Quaternary Prevention
set of health activities that
diminish or avoid the
consequences of unnecessary
or excessive interventions in the
health system
cost
Swine Flu

Alex University
AR Inheritance

Alex University
Prevention and Neurologic disorders
 Down syndrome
 PKU
 Congenital hypothyroidism
 Galactosemia
 Congenital rubella syndrome ( GM )

Alex University
Down syndrome
1ry (no DS baby)
 Translocated mother (4%)
Risk 10%
Risk 100% (21/21)
Prevention: genetic counseling
(prevent conception)
 Non-Disjunction (95%)
Risk: 1/1000
increase by: age or with a DS baby
Prevention: avoid late age or
frequent conception
Recent: Pre-implantation selection
?? Folic acid supplementa

Alex University
Down Syndrome
2ry Prevention ( DS baby)
 9-12 wks GA:2
1- neck US
2- Blood: hCGTH, PaPPa, fetal RBC
3- Villous biopsy
 12 -16 wks GA:
1- triad: AFP. UOstriol, hCGTH
2- tetrad: triad + inhibin
 > 16 wks GA:
Amniocentesis

Alex University
DS
3ry Prevention
 EIP
 Echocardiography
 Visual acuity/y
 Thyroid function/y (TSH,T4)
 Tympanometry/y
 Neck X ray at 3-5 yrs*
*Neutral view, flexion &
extension

Alex University
Galactosemia
Failure to thrive
vomiting
Galactusuria (sugar in
urine
AAuria, proteinuria

Alex University
Galactosemia
 Milk lactose  G + Gal
Gal G
 AR
 galactosemia 1: (classic)
GALT Def (galactose 1p uridyl transferase)
 Galactosemia 2:
GALK (Galactase=galactokinase)
 Galactosemia 3:
GALE (uridyl diphosphogalactose- 4 –
epimerase)
Sugar excretion in infancy
Leloir 1970
Nobel prize
3 genes

Alex University
Prevention
 1ry: Genetic counseling AR
 2ry: early Screening
- blood and urine: increased gal and Gal 1 P
- decreazed enzymes (UT, Galactokinase,
epimerase)
Prevention
Lactose free milk
 3ry: rehab, treat cataract

 galactosemia
fluorometric assay Beutler assay

Alex University
PKU
 AR
 Gene on chromosome 12
 Enzyme deficiency: phenylalanine hydroxylase
 Types:
1- classic
2- cofactor BH4 (tetrahydrobiopterin )
3- mixed* : mild ( no disease)

Alex University
PKU
 Classic: P Hydroxylase deficiency
- blood: severe hyperphenylalaninemia >20 mg/dl
 Cofactor BH4 deficiency
- normal phenylalanine in blood or mild raised
- BH4 Cofactor for phenylalanine, tyrosine and tryptophan
- diagnosis:
A- measure neopterin and biopterin in urine
B- loading test: oral BH4 (20 MG/KG) then measure phenylalanine
C- enzyme assay
 mixed

Alex University
C/P
Some CNS effects of untreated PKU include:
 mental retardation
 behavior problems, autism
 hyperactivity
 restlessness or irritability
 seizures
1- fair hair and skin
2- a “musty” or
“mousy” body
odor
3- Eczema

High-performance liquid chromatography
 phenylketonuria

Alex University
PKU
PREVENTION
 1ry: genetic counseling AR
 2ry: a- neonatal screening
then low phenylalanine milk
 3ry: rehabilitation , diet resriction
LOW phenylalanine milk

Alex University
maternal PKU syndrome
 Pregnancy in women with PKU (“Maternal PKU”)
Women with PKU who are not on the low-Phe diet
when they become pregnant have a high chance of
having babies with
 birth defects as congenital HD
 mental retardation
 microcephaly (recurrent)
 SGA

Alex University
Maternal PKU syndrome / Prevention
During pregnancy, they need to:
 stay on the low-Phe diet
 visit their PKU clinic on a regular basis
 have their blood Phe levels checked often

Early Signs of Congenital
Hypothyroidism
in the newborn
 Hypothermia.
 Sluggish & sleepy.
 Feeding difficulty.
 Respiratory difficulty.
 Mottling of the skin &
cold extremities.
 Constipation.
 Hypotonia.
 Large at birth.
 Wide fontanels.
 Posterior fontanel >0.5
cm.
 Umbilical hernia.
 Large tongue.
 Goiter may be present.
 Prolonged physiologic
jaundice
 Delayed passage of
meconium.

The Egyptian neonatal
screening program
• The cut-off point of the neonatal TSH (NTSH)
> 15 µIU/ml
• Serum TSH and free T4 in a venous sample
is done for :
NTSH > 40 µIU/ml from the first sample.
NTSH > 15 ≤ 40 µIU/ml confirmed twice in two
samples.

 Sodium-L-thyroxine given orally is the treatment of
choice.
 For infants, the starting dose usually is 12-15
ug/kg per day (37.5-50 µg/day).
 Children require 100 ug/m2/day.
 Thyroxine tablets should not be mixed with soy
protein formula or iron, because these can bind T4
and inhibit its absorption
Treatment

Dec 27,2003
Intra-Uterine Infection:
Cong Rubella Syndrome:
 1st 3 mo : 50% of fetus affected
 > 3mo : 15% of fetus affected
 CNS: MR, microcephaly, epilepsy
 SNHL
 Eyes: congenitaal cataract
 Cardiac: PDA
 organomagaly,
 SGA

Congenital Rubella Syndrome

Alex University
Prevention
 Congenital Rubella Vaccine:
vaccine of all females against (at least 3 mo
preconception) of GM
LA vaccine
SC
Age: 12 mo age
5 year age

www.scc-osha.com
Facebook.com/‫للطفل‬ ‫التخصصى‬ ‫المركز‬

Etiology :
 1ry (genetic)
 2ry (acquired )
 Idiopathic

Etiology :
1ry (genetic)
1- hereditary: AR, AD,XL
2- chromosomal disorders
3- syndrome/dysgenesis

Etiology :
Secondary ( Acquired)
 1- prenatal :fetal disorder, gestational disease, maternal disease
 2- perinatal : HIE, birth anoxia, neonatal sepsis, neonatal
hemorrhage
 3-Postnatal: meningitis/encephalitis, head trauma, IC hge,
severe dehydration, severe chronic malnutrition

mental retardation

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