Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0241981 (
loss of balance
)
452
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
This study utilized developmental profiling to examine symptoms in 14 girls with genetically confirmed
Rett syndrome
and whose families were participating in the Australian
Rett syndrome
or InterRett database. Regression was mostly characterized by loss of hand and/or communication skills (13/14) except one girl demonstrated slowing of skill development. Social withdrawal and inconsolable crying often developed simultaneously (9/14), with social withdrawal for shorter duration than inconsolable crying. Previously acquired gross motor skills declined in just over half of the sample (8/14), mostly observed as a
loss of balance
. Early abnormalities such as vomiting and strabismus were also seen. Our findings provide additional insight into the early clinical profile of
Rett syndrome
.
...
PMID:Early development and regression in Rett syndrome. 2334 73
