Growth failure and outcome in Rett syndrome: Specific growth references
نویسندگان
چکیده
منابع مشابه
Growth failure and outcome in Rett syndrome: specific growth references.
OBJECTIVES Prominent growth failure typifies Rett syndrome (RTT). Our aims were to 1) develop RTT growth charts for clinical and research settings, 2) compare growth in children with RTT with that of unaffected children, and 3) compare growth patterns among RTT genotypes and phenotypes. METHODS A cohort of the RTT Rare Diseases Clinical Research Network observational study participants was re...
متن کاملFeeding experiences and growth status in a Rett syndrome population.
OBJECTIVES Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the factors affecting growth. MATERIALS AND METHODS Using questionnaire data related to a population-based cohort, ages 2 to 29 years (n = 201), we measured the feeding experiences, growth, and factors affecting growth (enteral nutrit...
متن کاملReduced nerve growth factor in Rett syndrome postmortem brain tissue.
To determine whether reduced nerve growth factor (NGF) and/or its high affinity receptor, trkA, play a role in the pathophysiology of Rett syndrome (RS), we used immunohistochemistry in paraffin-embedded human autopsy brain tissue, to quantify NGF and trkA levels within the frontal cortex of 9 RS females and 10 female controls of similar age. The results showed a significant reduction of NGF ex...
متن کاملGrowth failure secondary to moyamoya syndrome.
We describe a boy who presented at the age of 7 years with short stature due to hypopituitarism. Six months after starting appropriate hormone replacement treatment at the age of 8 he suffered his first generalised convulsion. Further neuroradiological investigation led to the diagnosis of moyamoya syndrome.
متن کاملMetabolic Fingerprints of Altered Brain Growth, Osmoregulation and Neurotransmission in a Rett Syndrome Model
BACKGROUND Rett syndrome (RS) is the leading cause of profound mental retardation of genetic origin in girls. Since RS is mostly caused by mutations in the MECP2 gene, transgenic animal models such as the Mecp2-deleted ("Mecp2-null") mouse have been employed to study neurological symptoms and brain function. However, an interdisciplinary approach drawing from chemistry, biology and neuroscience...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Neurology
سال: 2012
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e31826e9a70