Down Syndrome, Mental Retardation, Learning Disabilities
Down Syndrome, Mental Retardation, Learning Disabilities
Down Syndrome, Mental Retardation, Learning Disabilities
Definition
- also called trisomy 21 because of a chromosomal
mutation resulting in a 3rd chromosome 21
- a chromosomal disorder resulting in 47 chromosomes
instead of 46
- results from faulty cell division affecting the 21st pair of
chromosomes
Etiology
- Increases in the frequency of thyroid autoantibodies
- Most translocations consist of centric fusions between
No. 21 and a D chromosome; ~1/2 of these are inherited.
- Viral infection that disturbs chromosome segregation for
infants following epidemics of infectious hepatitis.
- Advanced maternal age
Epidemiology
- Approximately 4000 infants with Down syndrome are
born annually in the United States with an incidence of 1
in 800 to 1000 live births.
2. Sensory Deficits
a) Visual and hearing deficits
b) Hearing speech
c) Can have cataracts, farsightedness, strabismus,
and nystagmus
3. Musculoskeletal Differences
a) Lineaar growtth deficits
b) Decrease in normal velocity of growth in stature
c) Led length reduction
d) 10-30% reduction in metacarpal and pahalangeal
length
e) Absent palmaris longus and supernumerary
forearm flexors
f) Lack of differentiation of distinct mm bellies for
the zygomaticus major and minor and the levatr
labii superioris
g) Hypotonia and ligamentous laxity
h) Hip subluxation is common
i) Deficiency in grip strength, isometric strength and
ankle strength
4. Cardiopulmonary pathologies
a) 40% are born with congenital heart defecrs, most
commonly atrioventricular canal defects and
ventriculoseptal defects
5. Physical Characteristics
a) Brachycephaly
b) Fontanesl are frequently larger than normal and
take longer to close
c) Aeas of hair loss
d) Skin is often dry and mottled in infancy and gets
rough when child gets older
e) Face has flat contour
f) Underdeveloped facial bones and mm and a small
nose
g) Eyes are characterized by narrow, slightly slanted
eyelids, with the corners marked by epicanthal
folds
h) Mouth is small, palate is narrow and tongue if
furrowed shape in later childhood
i) Dentition is often delayed and may be spotty
j) Abdomen may be slightly protuberant
k) Chest may have an abnormal shape
l) 90% have umbilical hernia
m) Hands and feet tend to be small and 5th finger is
curved inward
n) 50 % have a single crease across the aplm in one
or both hands
o) Toes are unusually short
p) Majority has a wide space between the 1st and 2nd
toes with a crease running between them on the
sole
Table 299-1. Some Complications of Down Syndrome*
SYSTEM
DEFICIT
Congenital heart disease, most often VSD and AV canal
Cardiac
Increased risk of mitral valve prolapse and aortic
regurgitation
Cognitive impairment (mild to severe)
Gross motor and language delay
CNS
Autistic behavior
Alzheimer's disease
Duodenal atresia or stenosis
GI
Hirschsprung's disease
Celiac sprue
Hypothyroidism
Endocrine
Diabetes
Ophthalmic disorders (eg, congenital cataracts, glaucoma,
strabismus, refractive errors)
EENT
Hearing loss
Increased incidence of otitis media
Short stature
Growth
Obesity
Hematologic disorders (eg, neonatal polycythemia,
Hematologic
transient leukemia, acute megakaryoblastic leukemia,
acute lymphoblastic leukemia)
Musculoskeletal
Atlantoaxial and atlanto-occipital instability
*Not all are present in a given patient, but incidence is increased compared with
unaffected population.
AV = atrioventricular; EENT = eyes, ears, nose, and throat; VSD = ventricular
septal defect.
Diagnosis
A doctor can make an initial diagnosis at birth based on
the looks of the baby. The baby may hear a
heart murmur when listening to the babys chest with a
stethoscope.
- X-rays
- CT Scan
- Amniocentesis
- Chorionic villus sampling
- Blood test
- Echocardiogram
- ECG
- Prenatal amniocentesis with karyotype analysis
Differential Diagnosis
Prognosis
PT Management
a. Objectives of care
General Goal: Anticipate gross and fine motor delay and
provide interventions and weight
Bearing
Mild
5268
Can develop
social
and
communicatio
n
skills,
muscle
coordination is
slightly
impaired,
often
not
diagnosed til
later age
Can learn up
to about the
6th-grade level
by late teens,
can be guided
toward social
conformity,
can
be
educated
Can
usually
achieve enough
social
and
vocational skills
for self support,
but may need
guidance
and
assistance
during times of
unusual social
or
economic
crisis
Moderate
3651
Can talk or
learn
to
communicate;
social
awareness is
poor; muscle
coordination is
fair;
profit
from
selftraining
in
self-help
Can
learn
some
skills
and
occupational
skills;
progression
beyond
2ndgrade level in
schoolwork is
unlikely; may
learn to travel
alone
in
familiar
training
May
achieve
self-support by
performing
unskilled
or
semiskilled
work
under
sheltered
conditions;
need
supervision and
guidance when
under
mild
social
or
economic
stress
Severe
2035
Can talk or
learn
to
communicate;
can
learn
simple health
habits; benefit
from
habit
training
May
continue
partially to selfcare
under
complete
supervision,
can
develop
some
useful
self-protection
skills
in
controlled
environment
Profound
19 or Extremely
Some muscle
belo
retarded; little coordination;
w
muscle
unlikely
to
coordination;
walk or talk
may
need
nursing care
Some
muscle
coordination
and
speech;
may
achieve
very
limited
self-care, need
nursing care
TECKLIN CLASSIFICATION
- key elements in the definition of MR are :
capabilities, environment and function
- previously used terms of mildly, moderate severely,
or profoundly retarded are no longer wildly
used
- Current classification carries with it an application of
new diagnostic criteria directly correlated to
need for support
-Four intensities of support: intermittent, limited,
extensive, and pervasive
-Support services may come to child with MR from 4
sources:
the individual child, other people, technology,
or habilitation services
IQ
50-55 to 70
Presch
ool
Often
appears
unimpaired;
develops
functional
social and
communicati
on skill
35-40 to
50-55
20-25 to
35-40
Impaired
social skills;
can
communicat
e; may need
supervision
Severely
impaired
communica
tion;
impared
motor skills
<20-25
Requires fullsupport;
dependent
for care;
limited
sensorimotor
development
Schoolaged
Academic
skills of 6th
grade are
possible;
special
education
support is
needed for
secondary
school
Adult
Can learn
social skills
and
vocational
skills
Can develop
up to 4th
grad
academic
skills with
special
traiming/
modification
Unskilled or
semiskilled
vocation
May learn
to
communica
te; basic
personal
health
habits,
limited
academic
skills
Needs
complete
support
and
supervision
for any selfsupport
activity
Some motor
development
contines to
be
dependdent
for
care;limited
success with
trainin
Limited
motor ability
and
communicati
on; continued
dependency
for care
ETIOLOGY
ETIOLOGIC CLASSIFICATION OF MR
ETIOLOGY
Prenatal Onset
1. Chromosomal Disorder
EXAMPLES
Examples
Downturner or Klinefelters syndrome
2. Syndrome disorders
of
Perinatal Causes
6. Intrauterine disorders
7. Neonatal disorders
Postnatal Causes
8. Head injuries
9. Infections
10. Demyelinating disorders
11.Degenerative disorders
12.Seizure disorders
13. Toxic-metabolic disorders
14. Malnutrition
15.Environmental deprivation
Examples
Placental insufficiency, maternal sepsis,
abnormal labor or delivery
Intraventricular hemorrhage, maternal
sepsis, abnormal labor or delivery
Examples
Intracranial
hemorrhage, contusion,
concussion
Encephalitis, meningitis, viral infections
Post-infections and post-immunization
disorders
Syndromic disorders, poliodystrophies,
basal ganglia
disorders, leukodystrophies
Infantile spasms, myoclonic epilepsy
Reyes syndrome, lead intoxication,
metabolic disorders
Protein-calorie,
prolonged
IV
alimentation
Psychosocial disadvantage, child abuse/
neglect
INCIDENCE
3% of population of US is assumed to have mental
retardation, only 1% to 1.5% are actually
diagnosed.
80% of cases , the cause is unknown
(4x) M.> W
75%- mild form
20%- moderate form
5%- severe or profound form
Down Syndrome - one fo the most prevalent form (
1 in 800 to 1000 in live births
PATHOPHYSIOLOGY
1. Depending on the cause; early diagnosis and prompt
treatment may be particularly important in cases
involving an identifiable and possibly correctable cause,
such as phenylketonuria, malnutrition, or child abuse.
2. Diagnosis usually is made after a period of suspicion.
Diagnosis may be made at birth from recognition of a
specific syndrome, such as Down syndrome. Diagnosis
and classification are based on standard IQ test scores.
CLINICAL MANIFESTATION
COMMON MANIFESTATIONS OF MENTAL RETARDATION by
AGE
Age
Newborn
Early infancy (2-4mo)
COMPLICATIONS (TECKLIN)
1. Neuromotor Impairments
Area of Concern
Dysmorphisms
major organ system dysfunction
(feeding & breathing)
Failure
to
interact
with
the
environment
Concerns about vision and hearing
impairments
Gross motor delay
Language delays or difficulties
Language difficulties or delays
Behavior difficulties, including play
Delays in fine motor skills: cutting,
coloring, drawing
Academic underachievement
Behavior difficulties
Diagnosis
Table 304-5. Tests for Some Causes of Intellectual Disability (MERCK)
SUSPECTED CAUSE
INDICATED TESTS
Failure to thrive
Idiopathic hypotonia
Genetic metabolic disorders
Seizures
EEG
Cranial CT, MRI*, or both
Blood Ca, P, Mg, amino acids, glucose, and
lead levels
Cranial
abnormalities
(eg,
premature closure of the sutures,
microcephaly,
macrocephaly,
craniostenosis, hydrocephalus)
Cerebral atrophy
Cerebral malformations
CNS hemorrhage
Tumor
Intracranial calcifications due to
toxoplasmosis,
cytomegalovirus
infection, or tuberous sclerosis
analyzer;
TORCH
toxoplasmosis,
rubella,
-determine
a
childs
inteelectual
functioning on the basis of an IQ of 70 or
75 below
- Instruments commonly used:
Stanford-Binet Intelligence Scale, 5th ed,
One of tthe Wechsler Scales, such as
Wechsler Intelligence Scale for ChildrenIV or Wechsler Preschool and Primary
Scale of Intelligence II, and the Kaufman
Assessment Battery for Children
Assessment of Adapive Skill level
Impairments in adaptive function are usuallt
the presenting symptoms in individuals with MR.
Adaptive skills are those skills considered to be central
to successful life functioning and are frequently
related to the need for supports for persons with
mental retardation
DIFFERENTIAL DIAGNOSIS
Autism
Borderline intellectual functioning
Child Abuse & Neglect, Posttraumatic Stress
Disorder
Childhood Disintegrative Disorder
Cognitive Deficits
Learning Disorder, Reading
Learning Disorder, Written Expression
Mathematics Learning Disorder
Pediatric Depression
Pervasive Developmental Disorder
Rett Syndrome
Severe communication/language disorders
Prognosis
Many people with mild to moderate ID can support
themselves, live independently, and be successful at jobs
that require basic intellectual skills. Life expectancy may
be shortened, depending on the etiology of the disability,
but health care is improving long-term health outcomes
for people with all types of developmental disabilities.
People with severe ID are likely to require life-long
support. The more severe the cognitive disability and the
greater the immobility, the higher the mortality risk.
PT MANAGEMENT
A. Objectives of care
Analyze not only what the child can do, but also the
process underlying the observed skills and behaviors
Perform an evaluation with as many functional
aspects as is reasonable
Identify not only the disability, but also the childs
abilites, however minimal
Understand by what means, or even whether, the
child is perceiving the world, including yo, before
continuing with the evaluation
LEARNING DISABILITIES
(MERCK)
Learning disabilities are conditions that cause a
discrepancy between potential and actual levels of
academic performance as predicted by the person's
intellectual abilities.
Learning disabilities involve impairments or difficulties in
concentration or attention, language development, or
visual and aural information processing.
Etiology
Epidemiology
Pathophysiology
Clinical Manifestations
Diagnosis
Cognitive evaluation typically includes verbal and
nonverbal intelligence testing and is usually done by
school personnel. Psychoeducational testing may be
helpful in describing the child's preferred manner of
processing information (eg, holistically or analytically,
visually or aurally). Neuropsychologic assessment is
particularly useful in children with known CNS injury or
illness to map the areas of the brain that correspond to
specific functional strengths and weaknesses. Speech and
language evaluations establish integrity of comprehension
and language use, phonologic processing, and verbal
memory.
Behavioral assessment and performance evaluation by
teachers' observations of classroom behavior and
determination of academic performance are essential.
Reading evaluations measure abilities in word decoding
and recognition, comprehension, and fluency. Writing
samples should be obtained to evaluate spelling, syntax,
and fluency of ideas. Mathematical ability should be
assessed in terms of computation skills, knowledge of
operations, and understanding of concepts.
Medical evaluation includes a detailed family history,
the child's medical history, a physical examination, and a
neurologic or neurodevelopmental examination to look for
underlying disorders. Although infrequent, physical
abnormalities and neurologic signs may indicate medically
treatable causes of learning disabilities. Gross motor
coordination problems may indicate neurologic deficits or
neurodevelopmental delays. Developmental level is
Prognosis
Complications
a. Learning disabilities in reading (dyslexia)
Signs of reading difficulty include problems with:
Letter and word recognition
Understanding words and ideas
Reading of speed and fluency
General vocabulary skills
b. Learning disabilities in math (dyscalculia)
A child with a math-based learning disorder may
struggle with memorization and
organization of numbers, operation signs, and number
Children with math learning disorders might also have
trouble with counting principles (such as counting by 2s
or counting by 5s) or have difficulty telling time.
c. Learning disabilities in writing (dysgraphia)
Symptoms of a written language learning disability
revolve around the act of writing. They
include problems with:
Neatness and consistency of writing
Accurately copying letters and words
Spelling consistency
Writing organization and coherence
Table 304-3.
DISABILITY
Dyslexia
Phonologic
dyslexia
Surface
dyslexia
Dysgraphia
Dyscalculia
Ageometria
Anarithmia
Dysnomia
MANIFESTATION
Problems with reading
Problems with sound analysis and memory
Problems with visual recognition of forms and structures of words
Problems with spelling, written expression, or handwriting
Problems with mathematics and difficulties with problem-solving
Problems due to disturbances in mathematical reasoning
Disturbances in basic concept formation and inability to acquire
computational skills
Difficulty recalling words and information from memory on
demand
PT Management
a. Objectives of care
Improve the quality of life and ability through learning
Improve functional abilities
Improve health
b. Appropriate interventions and its rationale
Exercises should address these three and should be
meaningful and relevant for the
patient
1. Cognitive show them pictures of storytelling then
make them recall the
sequence of the pictures shown or remember parts of the
story
2. Perceptual speed flash cards to an individual with a
learning disability for
him/her to recognize things
3. Psychomotor imagery
c. Rationale of intervention
1. To improve their cognitive functioning like for memory
and processing.
2. To be able to know objects or people in the pictures as
fast as they can to
test the individuals speed
3. For the individual to sychronize ones action with ones
imagination that the
physical therapist shall visually cue
d. Relevant health teaching(s) to patient & family
- Teach family to be supportive, kind and patient. They
should understand the situation of their
child and they should be show him/her love and care.
References