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Direct linkLumish, Heidi S.; Wynn, Julia; Devinsky, Orrin; Chung, Wendy K. – Journal of Autism and Developmental Disorders, 2015
Whole exome sequencing (WES) has been utilized with increasing frequency to identify mutations underlying rare diseases. Autism spectrum disorders (ASD) and intellectual disability (ID) are genetically heterogeneous, and novel genes for these disorders are rapidly being identified, making these disorders ideal candidates for WES. Here we report a…
Descriptors: Autism, Pervasive Developmental Disorders, Intellectual Disability, Epilepsy
Edens, Anna C.; Lyons, Michael J.; Duron, Reyna M.; DuPont, Barbara R.; Holden, Kenton R. – Developmental Medicine & Child Neurology, 2011
We present two phenotypically similar females with Xp duplication who have autism and epilepsy. Case 1 is a 14-year-old Honduran female with autism and medically refractory complex partial, secondarily generalized epilepsy. Case 2 is a 3-year-old Austrian female with autism and medically refractory complex partial epilepsy. Both patients also…
Descriptors: Epilepsy, Females, Patients, Autism
Meador, Kimford J.; Baker, Gus A.; Browning, Nancy; Cohen, Morris J.; Clayton-Smith, Jill; Kalayjian, Laura A.; Kanner, Andres; Liporace, Joyce D.; Pennell, Page B.; Privitera, Michael; Loring, David W. – Brain, 2011
We previously reported that foetal valproate exposure impairs intelligence quotient. In this follow-up investigation, we examined dose-related effects of foetal antiepileptic drug exposure on verbal and non-verbal cognitive measures. This investigation is an ongoing prospective observational multi-centre study in the USA and UK, which has enrolled…
Descriptors: Epilepsy, Seizures, Intelligence Quotient, Preschool Children
Taylor, Kelley R. – Principal Leadership, 2009
This article discusses a recent case decided by the U.S. Supreme Court which highlights the importance of having specific suspicions of misbehavior before conducting a strip search. The case involves an eighth-grade female student who was being strip-searched by a middle school assistant principal, a school nurse, and an administrative assistant…
Descriptors: Assistant Principals, School Nurses, Search and Seizure, School Districts
Bahi-Buisson, Nadia; Nectoux, Juliette; Rosas-Vargas, Haydee; Milh, Mathieu; Boddaert, Nathalie; Girard, Benoit; Cances, Claude; Ville, Dorothee; Afenjar, Alexandra; Rio, Marlene; Heron, Delphine; Morel, Marie Ange N'Guyen; Arzimanoglou, Alexis; Philippe, Christophe; Jonveaux, Philippe; Chelly, Jamel; Bienvenu, Thierry – Brain, 2008
Mutations in the human X-linked cyclin-dependent kinase-like 5 ("CDKL5") gene have been shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, less than 25 different mutations have been reported. So far, there are still little data on the key clinical diagnosis criteria and on the natural history of…
Descriptors: Females, Genetics, Seizures, Epilepsy
Scheffer, Ingrid E.; Turner, Samantha J.; Dibbens, Leanne M.; Bayly, Marta A.; Friend, Kathryn; Hodgson, Bree; Burrows, Linda; Shaw, Marie; Wei, Chen; Ullmann, Reinhard; Ropers, Hans-Hilger; Szepetowski, Pierre; Haan, Eric; Mazarib, Aziz; Afawi, Zaid; Neufeld, Miriam Y.; Andrews, P. Ian; Wallace, Geoffrey; Kivity, Sara; Lev, Dorit; Lerman-Sagie, Tally; Derry, Christopher P.; Korczyn, Amos D.; Gecz, Jozef; Mulley, John C.; Berkovic, Samuel F. – Brain, 2008
Epilepsy and Mental Retardation limited to Females (EFMR) which links to Xq22 has been reported in only one family. We aimed to determine if there was a distinctive phenotype that would enhance recognition of this disorder. We ascertained four unrelated families (two Australian, two Israeli) where seizures in females were transmitted through…
Descriptors: Epilepsy, Mental Retardation, Females, Genetics
Siniatchkin, Michael; Groppa, Sergey; Jerosch, Bettina; Muhle, Hiltrud; Kurth, Christoph; Shepherd, Alex J.; Siebner, Hartwig; Stephani, Ulrich – Brain, 2007
Photosensitivity or photoparoxysmal response (PPR) is a highly heritable electroencephalographic trait characterized by an abnormal cortical response to intermittent photic stimulation (IPS). In PPR-positive individuals, IPS induces spikes, spike-waves or intermittent slow waves. The PPR may be restricted to posterior visual areas (i.e. local PPR…
Descriptors: Females, Stimulation, Seizures, Medicine
Krishnamurthy, K. B.; Osborne, Patricia – Exceptional Parent, 2007
Adolescence is a time of transition, marking a period in which a teen's sexuality is developing physically and emotionally. A parent's job is to help children understand these feelings and how to respond safely and appropriately. While sexuality is important for both boys and girls, many issues are unique to females. Young girls with seizures need…
Descriptors: Females, Sexuality, Seizures, Gender Differences
Erol, Ilknur; Alehan, Fusun; Gumus, Ayten – Developmental Medicine & Child Neurology, 2007
Vitamin B[subscript 12] deficiency in infants often produces haematological and neurological deficits, including macrocytic anaemia, neurodevelopmental delay or regression, irritability, weakness, hypotonia, ataxia, apathy, tremor, and seizures. The diagnosis of vitamin B[subscript 12] deficiency can be difficult when the typical macrocytic…
Descriptors: Seizures, Cognitive Development, Infants, Child Health
