Fragile X syndrome history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
History and Symptoms
The physical features of Fragile X syndrome is prominent around the time of puberty. Physical features include:[1]
- Large and protruding ears
- Elongated face
- Macroorchidism (large testicles in men after puberty)
- Flat foot
- High Arched palate
- Hyperflexible finger joints
- Low muscle tone
The common features in child with Fragile X Syndrome include low IQ with learning difficulties (intellectual disabilities). Behavioral abnormalities includes stereotypic movements (e.g., hand-flapping) hyperactivity, inattention, poor social interaction, limited eye contact and poor memory. Child with Fragile X syndrome often presents with developmental delay (including delayed attainment of motor and language milestones).[2] Approximately, 20% of boy with Fragile X syndrome develops seizures (mostly simple or complex partial seizures)[3]
References
- ↑ McLennan Y, Polussa J, Tassone F, Hagerman R (2011). "Fragile x syndrome". Curr Genomics. 12 (3): 216–24. doi:10.2174/138920211795677886. PMC 3137006. PMID 22043169.
- ↑ Fisch GS, Simensen R, Tarleton J, Chalifoux M, Holden JJ, Carpenter N; et al. (1996). "Longitudinal study of cognitive abilities and adaptive behavior levels in fragile X males: a prospective multicenter analysis". Am J Med Genet. 64 (2): 356–61. doi:10.1002/(SICI)1096-8628(19960809)64:2<356::AID-AJMG24>3.0.CO;2-D. PMID 8844080.
- ↑ Hagerman PJ, Stafstrom CE (2009). "Origins of epilepsy in fragile X syndrome". Epilepsy Curr. 9 (4): 108–12. doi:10.1111/j.1535-7511.2009.01309.x. PMC 2728488. PMID 19693328.