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Learning Disability

Paediatrics Group 2. 2013. NUI Galway
by

Haikal Mansor

on 18 November 2014

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Transcript of Learning Disability

Learning Disability
October Group
Angelman's Syndrome
Imprinting
The expression of some gene is influenced by the sex of the parents who transmitted it.
Detected with DNA analysis
1:15,000
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
Clinical Features
Severe cognitive impairment & learning disability
Absent speech
Inappropriate laughing bouts
Epilepsy
Characteristic facial appearance
Microcephaly
Ataxic and characteristic gait
EEG abnormality
CAUSES
Antenatal
Perinatal
Postnatal
Others (25%)
GENETIC
Chromosomal
Cerebral dysgenesis
METABOLIC
Hypothyroidism
PKU
TERATOGENIC
Alcohol/Drugs
CONGENITAL INFECTION
NEUROCUTANEOUS SYNDROMES
EXTREME PREMATURITY
IVH
PVL
BIRTH ASPHYXIA
Hypo-ishchaemic
Encephalopathy
METABOLIC
Hypoglycaemia
Hyperbilirubinaemia
INFECTION
ANOXIA
TRAUMA
METABOLIC
Hypoglycaemia
Inborn errors of metabolism
UNKNOWN
Rett Syndrome
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
Stereotyped Movements
Hand wringing
Seizures
Extreme Anxiety
Scoliosis
Treatment:
MDT/Genetics?
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
Autism-like features
Physical Features
Large, everted ears
Long face + prominent mandible
Broad forehead
Macrocephaly
Post-pubertal macro-orchidism
+/- MVP, Scoliosis, Joint Laxity
Treatment
MDT/Co-morbidities
Clinical
Neuro
Educational
Psychologist
Child Psychiatrist
Occupational Therapist
Speech & Language Therapist
Multidisciplinary Team
Physiotherapist

Psychologist

Occupational Therapists

Assistive Technology Team

Speech and Language Therapist
Investigation
Family gains understanding, prognostic info.
Lessens parental blame
Prevents co-morbidity
Recurrence risk for future children and the wider family
Accessing more support (supports groups)
To address concern about possible causes
Potential treatment
Aims
GENETIC
Caryotype: Chromosome analysis
Fragile X testing: commonest cause of inherited learning disability, but dysmorphism difficult to recognise.
FISH: Submicroscopic microdeletions

NEUROIMAGING
< 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.

METABOLIC
IEM rare cause, but amenable to treatable.
Targeted and selective
BIOCHEMISTRY
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.

NEURPHYSIOLOGY
EEG not routinely, but for seizures, speech regression (Landau Kleffner)

OTHER INVESTIGATION
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.
Classification
Degree
Mild
Moderate
Severe
Profound
Severity
Learning Disability
Determined by IQ
50-70
35-49
20-39
<20
Mild
Moderate
Severe
Profound
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
Developmental assessment

Hearing assessment

Vision screening

Medical examination

Health promotion and education

Newborn metabolic screening

Growth monitoring

Oral and dental health
Areas
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
Management
Mastery model:
Find out the child’s interest / strengths  Practice!  next level
Direct instruction:
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
Special equipment:
Word processors with spell checkers and dictionaries (dysgraphia), books on tape (dyslexia), text-to-speech and speech-to-text programs
Classroom assistants:
Note-takers, readers
Special Education:
- 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
Measure progress
- Educational therapy : Teach about processing, focusing, and memory skills
Other professionals:
- speech & language therapist, psychologist
Medication
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
Prenatal testing
Edward Syndrome
Trisomy 18
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
Clinical features
Characteristic facies
Hypotonia
Neonatal feeding difficulties
Failure to thrive in infancy
Hyperphagia and obesity in later life
Hypogonadism
Developmental delay
Learning disability
Hurler Syndrome
Autosomal recessive
1:100 000
Glycosaminoglycans buildup
αAlpha L-iduronidase deficiency
Mucopolysaccharidosis type I (MPS I)
MPS I H
MPS S
MPS H-S
Features
Dwarfism
Enlarged tongue
Developmental delay
Face - flat, depressed, bulging
Hepatosplenomegaly
Heart - valves & arteries
Bone - spine, carpal tunnel syndrome
Lungs - infection, blockage
Treatment
Enzyme (Laronidase) replacement therapy
Bone marrow transplantation
Autism
Challenges
Early Difficulties
Antenatal diagnosis

Neonatal care

Later diagnosis
Other Difficulties
Who to involve?
Treatment/Management
Involving/Educating parents
Communication/Rapport
Tertiary care
Ethical issues
Thank you
HUnter Syndrome
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

Clinical features
Macrocephaly
Coarse jumpy hair
Big lips and tongue
Hypertrichosis
Alae nasi
Abdominal prominance (lax abdomen, splenomegaly and hepatomegaly)
Hernias
Joint contractures
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.

Development
Spectrum Disorders
manifests in early childhood and is characterized by qualitative abnormalities in
social interactions
markedly aberrant communication skills
and restricted repetitive behaviors, interests, and activities.
(3 Key Criteria)
Diagnosis
Child must have 6 or more symptoms
2 of which fall under the social skills category.
Treatment
Behavior and communication therapies
Many programs address the range of social, language and behavioral difficulties associated with autism.
Educational therapies
Children with autism often respond well to highly structured education programs
Family therapies
Parents and family members can learn how to play and interact with their children in ways that promote the child’s development
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