This approach can help to identify both primary and secondary epileptogenic zones in young TSC patients with multiple tubers. Multiple or bilateral seizure foci are not necessarily a contraindication to surgery. Long-term follow-up will determine whether this approach has durable effects.

Purpose: The purpose of this study was to describe the phenotype (and corresponding genotype) of adult patients with late-onset Tay-Sachs disease, a clinical variant of the G M2 -gangliosidoses. Methods: A comprehensive physical examination, including neurological assessments, was performed to establish the current disease pattern and severity. In addition, the patients' past medical histories were reviewed. The patients' ␣-subunit mutations (␤-Hexosaminidase A genotype) were determined and correlated with their corresponding clinical findings and disease course. Results: Twenty-one patients (current mean age: 27.0 years; range: 14 -47 years) were identified.The pedigree revealed a relative with the "classic" infantile or late-onset form of Tay-Sachs disease in four (out of 18) unrelated families. The patients were predominantly male (15/21 individuals) and of Ashkenazi Jewish ancestry (15/18 families). Mean age at onset was 18.1 years; balance problems and difficulty climbing stairs were the most frequent presenting complaints. In several cases, the diagnosis was delayed (mean age at diagnosis: 27.0 years). Analysis of the ␤-hex A gene revealed the G269S mutation as the most common disease allele; found in homozygosity (N ϭ 1) or heterozygosity (N ϭ 18; including 2 sib pairs). Disease onset (age 36 years) was delayed and progression relatively slower in the homozygous G269S patient. Two siblings (ages 28 and 31 years), of non-Jewish ancestry, were compound heterozygotes (TATC1278/W474C); their clinical course is dominated by psychiatric problems. Brain imaging studies revealed marked cerebellar atrophy in all patients (N ϭ 18) tested, regardless of disease stage. Conclusions: Late-onset Tay-Sachs disease is an infrequent disorder and the diagnosis is often missed or delayed (by approximately 8 years). Early on, the majority of patients develop signs of either cerebellar or anterior motor neuron involvement. Affected individuals may also develop psychotic episodes. In most cases, the later-onset of expression results from the presence of at least one allele (usually the G269S mutation), associated with residual enzyme (␤-hexosaminidase A) activity. A positive family history is a valuable clue, enabling early diagnosis. Nonspecific cerebellar atrophy on brain imaging is another important finding. This entity should be considered among patients presenting with speech, gait, and balance problems, and those with psychiatric disorders even when focal neurologic deficits may be initially absent. Accurate diagnosis will permit appropriate genetic counseling regarding disease prognosis and reproductive risks. Genet Med 2005:7(2): 119 -123.

Age-related deterioration in stereoacuity is reflected not only by a linear correlation between age and threshold but also by a catastrophic factor that produces more marked deterioration after age 60. Both factors are probably cerebral and not specifically related to stereopsis. The prevalence of fixation disparity in the normal population is probably more common than previously reported.

BackgroundIn China, children with Autism Spectrum Disorder (ASD) can potentially benefit from universal education policies and recent initiatives designed to address the needs of children with developmental disorders. However, adequate schooling is often unavailable for children with ASD, in part because teachers lack the knowledge and skills needed to work with this population. To better understand the current state of knowledge of ASD in China, we surveyed knowledge and attitudes regarding the disorder in preschool teachers.MethodsA total of 471 preschool teachers in the cities of Guangzhou and Foshan, China completed questionnaires assessing participant demographics, knowledge of typical child development and knowledge of ASD, attitudes towards ASD, practices and self-perceptions of efficacy in the education of children with ASD, and awareness of organizations and intervention approaches devoted to the care of individuals with ASD. The correlation between individual- and school-level variables with current knowledge of typical child development and ASD was examined using univariate and multivariate analyses.ResultsThe majority (84 %) of participants answered correctly more than half of the questionnaire items assessing understanding of typical child development. In contrast, 83 % provided inaccurate responses to more than half of the questionnaire items assessing knowledge of ASD. Knowledge of typical child development and knowledge of ASD were both associated with geographic region (teachers in Guangzhou had greater knowledge than those in Foshan, p < 0.0001). Knowledge of ASD was also associated with a higher education level (p < 0.05) and school type (p = 0.023). In general, participants believed fairly strongly in the need for greater service provision for children with ASD, and were receptive towards receiving additional specialized training. Most participants were unaware of ASD-specific organizations and empirically validated intervention approaches.ConclusionsKnowledge of ASD is lacking in preschool teachers in China, and greater teacher training and instruction is needed. Nonetheless, teachers report a willingness and motivation to gain the skills needed to maximize the educational experiences of children with ASD.Electronic supplementary materialThe online version of this article (doi:10.1186/s12888-016-0845-2) contains supplementary material, which is available to authorized users.

Summary:Multicenter, retrospective analysis of 70 subjects with TSC following surgery for relief of epilepsy revealed significant associations between younger age at seizure onset, present/prior history of infantile spasms, interictal focality (bilateral versus unilateral), and absence of residual postoperative predominant tuber, and poorer postoperative outcome (p < 0.01). Ictal multifocality, mental retardation, and discordant EEG and MRI data showed a negative trend toward outcome, but were not significant.