Self-concept in children with Down syndrome.

Self-concept is a critical indicator of quality of life but few studies have examined this subject in children with Down syndrome (DS). In this study, we propose a novel methodology to assess the self-concept of children with DS by analyzing their responses towards two dolls, one with a "typically developing" (TD) appearance and one with the phenotypic features of DS. Fifty-four children with DS participated in play sessions with both dolls and were then interviewed to assess doll preference, resemblance, and attribution of positive qualities. We observed that children with DS: (i) exhibited a preference for the TD doll regardless of age, gender, IQ or self-awareness; (ii) attributed more positive qualities to the TD doll than the DS doll; and (iii) believed that they resembled the TD doll, rather than the more phenotypically accurate representation of themselves. Older participants were more likely to exhibit self-recognition by this technique. These findings contribute to current understandings of how people with DS view themselves and their disability.

Down syndrome and dementia: a randomized, controlled trial of antioxidant supplementation.

Individuals with Down syndrome over age 40 years are at risk for developing dementia of the Alzheimer type and have evidence for chronic oxidative stress. There is a paucity of treatment trials for dementia in Down syndrome in comparison to Alzheimer disease in the general (non-Down syndrome) population. This 2-year randomized, double-blind, placebo-controlled trial assessed whether daily oral antioxidant supplementation (900 IU of alpha-tocopherol, 200 mg of ascorbic acid and 600 mg of alpha-lipoic acid) was effective, safe and tolerable for 53 individuals with Down syndrome and dementia. The outcome measures comprised a battery of neuropsychological assessments administered at baseline and every 6 months. Compared to the placebo group, those individuals receiving the antioxidant supplement showed neither an improvement in cognitive functioning nor a stabilization of cognitive decline. Mean plasma levels of alpha-tocopherol increased ~2-fold in the treatment group and were consistently higher than the placebo group over the treatment period. Pill counts indicated good compliance with the regimen. No serious adverse events attributed to the treatment were noted. We conclude that antioxidant supplementation is safe, though ineffective as a treatment for dementia in individuals with Down syndrome and Alzheimer type dementia. Our findings are similar to studies of antioxidant supplementation in Alzheimer disease in the general population. The feasibility of carrying out a clinical trial for dementia in Down syndrome is demonstrated.

Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3.

Although SCN1A, the gene encoding the neuronal voltage-gated sodium channel, type 1A, is a well-recognized target of mutations underlying a spectrum of epilepsy syndromes, and lies within an extended 12-Mb disease-associated haplotype at the familial hemiplegic migraine-3 locus, it remains to be confirmed that mutations within this gene itself cause syndromes that include migraine phenotypes. The novel T1174S missense mutation of this gene was detected segregating in a family with a heterozygous female child who presented with myoclonus and an abnormal electroencephalogram, and in her heterozygous mother, who had an ataxic migraine syndrome similar to that of her own mother. This three-generation family exhibits the broad phenotypic spectrum of the dominant neuronal hyperexcitability syndromes produced by even a given allele of this sodium channel gene. It also exhibits the second allele of this sodium channel gene associated with a migraine syndrome similar to those caused at the two other familial hemiplegic migraine loci, confirming that this gene itself, not some linked gene, is the familial hemiplegic migraine-3 locus.

Filicide-suicide involving children with disabilities.

Filicide-suicide, or murder of a child by a parent followed by suicide, has an unknown incidence in both the general and disabled population. As there is no national database, the authors examined known associated factors and newspaper reports to characterize filicide-suicide victims and perpetrators involving children with disabilities. A newspaper search was conducted using LexisNexis and NewsBank: Access World News databases through the University of California, Irvine Library's Web site. Age, gender of child and parent, method used, and diagnoses of parent and child were recorded. Twenty-two news articles were found describing a total of 26 disabled children as victims of filicide-suicide between 1982 and 2010. Eighty-one percent of children killed were male, and 54% were autistic. Thirty percent of perpetrators had a reported mental illness. Male children or children with autism may be at risk for filicide-suicide, but accurate record keeping is needed to determine the incidence and risk factors and aid in its prevention in the disabled population.

Down syndrome and dementia: seizures and cognitive decline.

The objective of this study was to determine the association of seizures and cognitive decline in adults with Down syndrome (DS) and Alzheimer's-type dementia. A retrospective data analysis was carried out following a controlled study of antioxidant supplementation for dementia in DS. Observations were made at baseline and every 6 months for 2 years. Seizure history was obtained from study records. The primary outcome measures comprised the performance-based Severe Impairment Battery (SIB) and Brief Praxis Test (BPT). Secondary outcome measures comprised the informant-based Dementia Questionnaire for Mentally Retarded Persons and Vineland Adaptive Behavior Scales. Because a large proportion of patients with seizures had such severe cognitive decline as to become untestable on the performance measures, time to "first inability to test" was measured. Adjustments were made for the potentially confounding co-variates of age, gender, APOE4 status, baseline cognitive impairment, years since dementia onset at baseline, and treatment assignment. The estimated odds ratio for the time to "first inability to test" on SIB comparing those with seizures to those without is 11.02 (95% CI: 1.59, 76.27), a ratio that is significantly different from 1 (p = 0.015). Similarly, we estimated an odds ratio of 9.02 (95% CI: 1.90, 42.85) on BPT, a ratio also significantly different than 1 (p = 0.006). Results from a secondary analysis of the informant measures showed significant decline related to seizures. We conclude that there is a strong association of seizures with cognitive decline in demented individuals with DS. Prospective studies exploring this relationship in DS are indicated.

Absence of seizures despite high prevalence of epileptiform EEG abnormalities in children with autism monitored in a tertiary care center.

PURPOSE: Children with autism are commonly referred for video-EEG monitoring to determine the precise nature of their seizure-like events. METHODS: We studied 32 children with autism by using continuous video-EEG telemetry (VEEG) monitoring at a tertiary care referral center. RESULTS: Of the 32 total patients, 22 were primarily referred for seizure evaluation and 10 for 24-h interictal EEG recording. Studies in two additional patients were prematurely terminated because of intolerance (they are not included in the analyses). The median monitoring duration was 1 day (range, 1-7 days). Of 22 patients referred for seizure evaluation, 15 had recorded events, but none was an epileptic seizure; the other seven patients had no recorded events. Interictal epileptiform EEG abnormalities were detected in 19 (59%) of 32 patients. These abnormalities included focal sharp waves (in eight patients), multifocal sharp waves (in six patients), generalized spike-wave complexes (in 11 patients), and generalized paroxysmal fast activity/polyspikes (in two patients). Focal/multifocal and generalized epileptiform abnormalities coexisted in six patients. Notably, 11 (73%) of the 15 patients with nonepileptic events had interictal epileptiform EEG abnormalities. CONCLUSIONS: Video-EEG evaluation of children with autism reveals epileptiform EEG abnormalities in the majority. However, many recorded seizure-like events are not epileptic, even in children with epileptiform EEG abnormalities.

Behavioral disorders in pediatric epilepsy: unmet psychiatric need.

PURPOSE: This study examined the relation between psychiatric diagnosis and mental health services in children with epilepsy and the associated demographic, cognitive, linguistic, behavioral, and seizure-related variables. METHODS: The Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), the Child Behavior Checklist, the Test of Language Development, and the Wechsler Intelligence Scale for Children-Revised (WISC-R) were administered to 114 children, aged 5 to 16 years, with either complex partial seizures (CPS) or primary generalized with absence (PGE, petit mal). A Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) diagnosis and information regarding mental health services were derived from the K-SADS. RESULTS: Although approximately 60% of the subjects had a DSM-IV psychiatric diagnosis, >60% received no mental health treatment. Absence of mental health care was associated with younger age, less parental education, limited number of antiepileptic drugs (AEDs; i.e., one or none), and higher verbal IQ. In addition, children with PGE and a single psychiatric diagnosis were less likely to have a history of mental health treatment. CONCLUSIONS: This is the first study to demonstrate unmet mental health need in a large sample of children with CPS and PGE. The study's findings suggest that parents and clinicians should be aware of the mental health needs of children with epilepsy, particularly if they have one or more of the identified risk factors.