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X-linked disorder
FMRP
Associated Conditions
Epilepsy10-20% M & 5% F
Clinical Features
Males
Physical
Craniofacial
Cognitive
Intellectual disability
Learning disabilities
Behavioural
Females
Large ears
Sunken eyes
Strabismus
Diagnosis
Developmental delay
Mental retardation
Management
Educational Interventions
Occupational therapy
Phamacotherapy
Stimulants
SSRIs
Antipsychotics
Anticonvulsant
Genetic Counselling
Rett Syndrome
Neurodevelopmental disorder
that occurs almost exclusively in
females
MECP2 gene
Klinefelters syndrome/
mosaicism
Clinical Features
Stereotypies
Inconsolable screaming
Rapid/ insidious
Slow Deterioration
Diagnosis
All of:
Loss of speech
Impaired gait
Stereotypies
None of:
Variants
Atypical
Preserved speech
Early seizure
Congenital
Management
MDT approach
Nutrition
ECG