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Query: UMLS:C0016382 (flushing)
 6,387 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Individuals with autism often present with toileting problems, yet there is little information about the nature of these problems. This investigation surveyed 100 parents of people with autism of a mean age of 19.5 years. Results indicated that lower cognition and lower verbal levels were significantly correlated with age of accomplishment of bowel and urine training; some subjects were not trained at the time of the study. The average duration of urine training was 1.6 years, bowel training 2.1 years. On the average, training started more than 2 1/2 years before the average age of diagnosis of autism. Fifty-six percent of the sample had to be taught to self-initiate, 42% were taught to ask to use the toilet, and 49% were taught using a schedule. Reinforcement was used by 78% of the parents of males and by 100% of the parents of females. Punishment, primarily scolding was used by 37% of the parents. The most common problems reported were urinating in places other than the toilet, constipation, stuffing up toilets, continually flushing, or smearing feces. More fears related to toileting were noted for verbal subjects.
J Autism Dev Disord 1992 Jun
PMID:Toilet training and behaviors of people with autism: parent views. 162 8

The forkhead box (FOX) transcription factors have roles in development, carcinogenesis, metabolism, and immunity. In humans FOXP1 mutations have been associated with language and speech defects, intellectual disability, autism spectrum disorder, facial dysmorphisms, and congenital anomalies of the kidney and urinary tract. In mice, Foxp1 plays critical roles in development of the spinal motor neurons, lymphocytes, cardiomyocytes, foregut, and skeleton. We hypothesized therefore that mutations of FOXP1 affect additional tissues in some humans. Supporting this hypothesis, we describe two individuals with novel variants of FOXP1 (NM_032682.5:c.975-2A>C and NM_032682.5:c.1574G>A) and additional features. One had a lung disease resembling neuroendocrine cell hyperplasia of infancy (NEHI), and the second had a skeletal disorder with undertubulation of the long bones and relapsing-remitting fevers associated with flushing and edema. Although attribution of these traits to mutation of FOXP1 requires ascertainment of additional patients, we hypothesize that the variable expression of these additional features might arise by means of stochastic developmental variation.
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PMID:FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability? 2888 88