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Transcript of Learning Disability
The expression of some gene is influenced by the sex of the parents who transmitted it.
Detected with DNA analysis
Lack of maternal 15q (delection of 15q11-q13),
but 2 parental copies
loss of function of maternal UBE3A gene
Most tissues express UBE3A, whereas the brain expresses predominantly the maternal allele, giving specific clinical features
Severe cognitive impairment & learning disability
Inappropriate laughing bouts
Characteristic facial appearance
Ataxic and characteristic gait
Inborn errors of metabolism
1:10 000 F
Pervasive Developmental Disorder (PDD)
X-linked (MECP2 Gene)
Normal prenatal/perinatal development/psychomotor development until 5 months
Loss of developed skills thereafter
Ø Verbal skills
↓ Head growth
35 years - 70%
Fragile X Syndrome
1:3 600 M
X-linked Recessive (FMR-1)
Most common identifiable,
inherited cause of intellectual disability
↓ IQ (50)
Short attention span/impulsiveness
Large, everted ears
Long face + prominent mandible
+/- MVP, Scoliosis, Joint Laxity
Speech & Language Therapist
Assistive Technology Team
Speech and Language Therapist
Family gains understanding, prognostic info.
Lessens parental blame
Recurrence risk for future children and the wider family
Accessing more support (supports groups)
To address concern about possible causes
Caryotype: Chromosome analysis
Fragile X testing: commonest cause of inherited learning disability, but dysmorphism difficult to recognise.
FISH: Submicroscopic microdeletions
< 5-6 years requires day case admission with sedation or general anaesthesia.
First two years: before cerebral myelination, should be repeated.
Proportion of abnormalities in neuroimaging from 9-80%.
CT-scan: calcification or abnormality of skull bones.
IEM rare cause, but amenable to treatable.
Targeted and selective
CK: Duchenne Muscular Dystrophy, boy
Renal, bone: E&U, Ca2+ velo-cardio-facial and Williams syndrome and pseudohypoparathyroidism.
TFT: neonatal screening. Chromosomal abnormalities associated with hypothyroidism.
Lead: chronic lead toxicity. TTT by chelation.
FBC + ferritin: iron deficiency.
EEG not routinely, but for seizures, speech regression (Landau Kleffner)
Visual & Audiology assessments.
TORCH screen: congenital infection
PCR: infective organisms
Radiographs: skeletal dysplasia, lead toxicity.
Defines as learning disabilities as a state of arrested or incomplete development of mind. Somebody with a general learning disability is said to have a significant impairment of intellectual, adaptive and social functioning. A learning disability is not acquired in adulthood and is evident from childhood.
Determined by IQ
Classification to a degree is inappropriate
General learning disability must be assessed and treated as an individual
Person's degree of intellectual impairment provides very little information about a person's social, educational and personal needs, and the kind of help and support he or she might require
Presentation of a child with a Disability
Best Health for Children - Developing a Partnership with Families (BHFC) was published in 1999 and revisited in 2005
Child health surveillance programme
Shift to observation of child behaviour and development- parental observation & concern
Health promotion and education
Newborn metabolic screening
Oral and dental health
Birth 3.5 years
Birth School exit
Birth School entry
Birth 24 months
After 72 hours and before 120 hours after Birth
Birth School entry
Birth 3.5 years
Birth School exit
* Enable Ireland Partnership with Parents
Find out the child’s interest / strengths Practice! next level
Break down tasks to smaller steps, give direction both verbally & in writing
Correcting mistakes immediately
Group based on achievement & progress
Classroom adjustments / accommodation:
Special seating assignments, alternative or modified assignments, modified testing procedures, quiet environment
Word processors with spell checkers and dictionaries (dysgraphia), books on tape (dyslexia), text-to-speech and speech-to-text programs
- Prescribe hours in resource room (separate, remedial classroom for assistance with homework & learning as individuals/ small groups for better monitoring)
- Enrollment in a special school for learning disabled students
- Individual Education Plan (IEP)
IEP Team Members : Parents, regular education teachers, special education teachers, administrators & service providers.
Current performance, annual goals, special education
Services: accommodations, participation in state and district-wide tests, needed transition services
- Educational therapy : Teach about processing, focusing, and memory skills
- speech & language therapist, psychologist
to enhance attention & concentration
Most common chromosome abnormality in humans – trisomy 21
Associated with physical growth delays, particular facial characteristics and a severe degree of intellectual disability
Growth parameters such as height, weight, and head circumference are smaller in children with DS
Increased risk for developing a number of neurological, gastrointestinal, cardiac and thyroid conditions along with an increased risk for certain cancers
1 in 6,000 live births, 80% female.
Majority of fetuses die before birth.
Incidence increases with maternal age.
Very low survival rate:
- 50% do not survive beyond the first week of life.
- Median lifespan: 5–15 days.
- About 8% of infants survive longer than 1 year.
- 1% live to age 10.
Prader Willi Syndrome
Its estimated that approximately 1 in 12,000-15,000 have Prader Willi Syndrome
Is a rare genetic condition thats associated with a deletion in the paternally derived chromosome 15
It can occur in both sexes
Neonatal feeding difficulties
Failure to thrive in infancy
Hyperphagia and obesity in later life
αAlpha L-iduronidase deficiency
Mucopolysaccharidosis type I (MPS I)
MPS I H
Face - flat, depressed, bulging
Heart - valves & arteries
Bone - spine, carpal tunnel syndrome
Lungs - infection, blockage
Enzyme (Laronidase) replacement therapy
Bone marrow transplantation
Who to involve?
X- linked recessive caused by deficiency
of the lysosomal enzyme iduronate-2-sulphatase (I2S)
Causes deposition of glycosaminoglycan in extracellular matrix and cells.
Death is mostly in the second decade of live
Coarse jumpy hair
Big lips and tongue
Abdominal prominance (lax abdomen, splenomegaly and hepatomegaly)
Papular pearly rash across the scapulae
Early development is unaffected but then it after 18 months it slows and then plateaus. They are usually hyperactive and aggressive.
manifests in early childhood and is characterized by qualitative abnormalities in
markedly aberrant communication skills
and restricted repetitive behaviors, interests, and activities.
(3 Key Criteria)
Child must have 6 or more symptoms
2 of which fall under the social skills category.
Behavior and communication therapies
Many programs address the range of social, language and behavioral difficulties associated with autism.
Children with autism often respond well to highly structured education programs
Parents and family members can learn how to play and interact with their children in ways that promote the child’s development