Adults and older children with AxD present with type II AxD comprising a clinical presentation of autonomic dysfunction, and bulbar symptoms, including palatal tremor and oculomotor abnormalities. The second most common presentation is a slowly progressive myelopathy. Unlike in type I AxD, macrocephaly,...
Macrocephaly in children and adults with autism. Microcephaly and macrocephaly in autism. Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of ...
The DICER1 syndrome in adults was not associ- ated with greater height after adjusting for gender (difference = 2.5 cm; 95% confidence interval: −1.0–6.1; P = 0.160). Larger head circumference in DICER1 carriers was independent from differences in height As noted above, OFC and ...
In adults, PTEN mutations cause Cowden syndrome where, in addition to the macrocephaly, there is a higher risk of tumour development. Diagnosis of BRRS is often delayed as presentation can be variable, even within families.N E LynchS A Lynch...
Macrocephaly in children and adults with autism. Journal of the American Academy of Child & Adolescent Psychiatry 36, 282-290... KU Entwicklung - 《Z Kinder》 被引量: 18发表: 1997年 加载更多来源期刊 Journal of child neurology 研究点推荐 Magnetic resonance imaging characteristics benign macroceph...
Macrocephaly in Children and Adults With Autism Macrocephaly is common in autism and usually is not present at birth. Rates of head growth may be abnormal in early and middle childhood in some (37%) chil... JE Lainhart,J Piven,M Wzorek,... - 《Journal of the American Academy of Child ...
Sudden death in adults Sudden death in adulthood is also significantly increased, starting at age 25 years in both males and females (Hecht et al., 1987; Wynn et al., 2007). This was first appreciated in a historical cohort study of 801 individuals with achondroplasia and then confirmed in...
In adults, PTEN mutations cause Cowden syndrome where, in addition to the macrocephaly, there is a higher risk of tumour development. Diagnosis of BRRS is often delayed as presentation can be variable, even within families. Aims: To identify characteristics of this condition which might facilitate...
Objectives: For millions of disabled older adults each year, postacute care in skilled nursing facilities is a brief window of opportunity to regain enough function to return home and live independently. Too often this goal is not achieved, possibly because of therapy that is inadequately intense ...
Child Neurology: Differential Diagnosis of a Low CSF Glucose in Children and Young Adults. Neurology 2013, 81, e178–e181. [Google Scholar] [CrossRef] [PubMed] Ramantani, G.; Schmitt, B.; Plecko, B.; Pressler, R.M.; Wohlrab, G.; Klebermass-Schrehof, K.; Hagmann, C.; Pisani,...