Epilepsy and EEG Findings in Males with Fragile X Syndrome

Abstract

Summary: Purpose and Methods: One hundred and ninetytwo fragile X male patients were investigated for seizures and EEG findings, 168 in a retrospective and 24 in another prospective study, to characterize the natural history of seizures, epilepsy, and EEG abnormalities in males with this syndrome.Results: Seizures were documented in 35 (18.2%) of 192 patients; they never started before the age of 2 years or after the age of 9 years. Seizures were frequently of the complex partial type and less frequently of the partial motor and generalized type. Seizures involving frontal and temporal lobes were commonly seen and were usually well controlled by anticonvulsants. I n the majority of young fragile X patients studied, an age-related paroxysmal EEG pattern was found, which showed neurophysiologic characteristics very similar to those of the centrotemporal spikes.Conclusions: These findings confirm that fragile X syndrome can be considered a genetic model of epilepcy.

Early developmental alterations in GABAergic protein expression in fragile X knockout mice

“…The incidence rate is roughly between is 13%-18% in males and 5% in females (Musumeci et al, 1999;Sabaratnam et al, 2001). The occurrence of seizures usually begins in early childhood (between 6 months and 4 years of age), but the majority of patients experience a resolution of seizures by adolescence (Berry-Kravis, 2002).…”

Therapeutic Strategies in Fragile X Syndrome: Dysregulated mGluR Signaling and Beyond

“…Physical features and associated medical problems Hagerman et al, 2009) are variably present and include: macroorchidism (present in most adult males), prominent ears, macrocephaly, long face, high arched palate, hyperextensible joints, soft skin, recurrent otitis media and sinusitis, gastroesophageal reflux, strabismus and farsightedness (Maino et al, 1991), hyperphagia and obesity Utari et al, 2010), mitral valve prolapse and valvular insufficiency (particularly in adults), pes planus (flat feet), joint dislocations, scoliosis, disrupted sleep patterns (Kronk et al, 2010), and obstructive sleep apnea. Seizures occur in B15% of males and 6-8% of females with FXS, and most commonly are partial complex (Musumeci et al, 1999;Berry-Kravis, 2002;Berry-Kravis et al, 2010), have onset between age 4 and 10 years, and resolve during childhood, although presence of seizures appears to be an indicator of an increased risk for autism in FXS (Berry-Kravis, 2002;Berry-Kravis et al, 2010). Although important to manage when present, the medical and physical problems are mild, and cognitive and behavioral impairments are the aspects of the phenotype that result in substantial functional limitations.…”

Fragile X Syndrome: A Review of Associated Medical Problems

“…Previous studies recruiting from programs focused on epilepsy and neurology clinics reported a broad range of 14% to 44% prevalence, [30][31][32][33][34][35][36][37][38] and genetics clinics reported an intermediate range of 9% to 27%. [39][40][41][42] Larger studies focused on people with FXS in the community or FXS clinics reported lower prevalence rates overall, ranging from 12% to 18%, 29,[43][44][45] and with higher prevalence for male than for female patients. In the FXCRC Database, seizures had occurred in 10% of patients, with a higher prevalence in male patients than in female patients (Table 1).…”