Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0155339 (Brown)
12,436 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A micronutrient supplement containing a broad range of dietary minerals and vitamins is being examined for the treatment of mood lability in both adults and children (Kaplan et al. 2001; Popper 2001). During pilot work, two medication-free boys with mood lability and explosive rage were studied in an open-label treatment followed by reversal and retreatment. One child was an 8-year-old with atypical obsessive-compulsive disorder, and the other was a 12-year-old with pervasive developmental delay. Both boys were monitored using the mood and temper items from the Conners Parent Rating Scale, as well as the Child Behavior Checklist. In addition, the boy with atypical obsessive-compulsive disorder was monitored with the child version of the Yale-Brown Obsessive Compulsive Scale. Both boys benefited from the micronutrient supplement when examined in ABAB designs: mood, angry outbursts, and obsessional symptoms improved when initially treated, returned when not taking the supplement, and remitted when the micronutrient supplement was reintroduced. Both boys have been followed and are stable on the nutritional supplement for over 2 years. These cases suggest that mood lability and explosive rage can, in some cases, be managed with a mixture of biologically active minerals and vitamins, without using lithium or other traditional psychopharmacologic agents.
...
PMID:Treatment of mood lability and explosive rage with minerals and vitamins: two case studies in children. 1242 94

Upright sitting is one of the first motor skills an infant learns, and thus sitting postural control provides an early window into the infant's motor development. Early identification of infants with motor developmental delay, such as infants with cerebral palsy, allows for early therapeutic intervention by physical therapists. Early intervention is thought to produce better outcomes, due to greater neural plasticity in younger infants. Postural sway, as measured by a force plate, can be used to objectively and quantitatively characterize infant motor control during sitting. Pathology, such as cerebral palsy, may alter the fractal properties of motor function. Often physiologic time series data, including infant sitting postural sway data, is mathematically non-stationary. Detrended Fluctuation Analysis (DFA) is useful to characterize the fractal nature of time series data because it is does not assume stationarity of the data. In this study we found that suitable selection of the order of the detrending function improves the performance of the DFA algorithm, with a higher order polynomial detrending better able to distinguish infant sitting posture time series data from Brown noise (random walk), and first order detrending better able to distinguish infants with motor delay (cerebral palsy) from infants with typical development.
...
PMID:Nonlinear detrended fluctuation analysis of sitting center-of-pressure data as an early measure of motor development pathology in infants. 1978 Nov 35

This study investigated whether children with autism have atypical development of morphological and syntactic skills, including whether they use rote learning to compensate for impaired morphological processing and acquire grammatical morphemes in an atypical order. Participants were children aged from 3-6 years who had autism (n = 17), developmental delay without autism (n = 7), and typically-developing children (n = 19). Language samples were taken from participants during the administration of the Autism Diagnostic Observation Schedule, and transcripts were coded using the Index of Productive Syntax, and for usage of Brown's grammatical morphemes. Participants were also administered an elicitation task requiring the application of inflections to non-words; the Wugs Task. The main finding of this study was that children with autism have unevenly developed morphological and syntactic sub-skills; they have skills which are a combination of intact, delayed, and atypical. It was also found that children with autism and children with developmental delays can acquire and use morphological rules. The implications of these findings are that, in order to maximize language acquisition for these children, clinicians need to utilize comprehensive language assessment tools and design interventions that are tailored to the child's strengths and weaknesses.
...
PMID:Morphological and syntactic skills in language samples of pre school aged children with autism: atypical development? 2239 Jul 43

Overgrowth syndromes are a clinically heterogeneous group of disorders characterized by localized or generalized tissue overgrowth and varying degrees of developmental and intellectual disability. An expanding list of genes associated with overgrowth syndromes include the histone methyltransferase genes EZH2 and NSD1, which cause Weaver and Sotos syndrome, respectively, and the DNA methyltransferase (DNMT3A) gene that results in Tatton-Brown-Rahman syndrome (TBRS). Here, we describe a 5-year-old female with a paternally inherited pathogenic mutation in EZH2 (c.2050C>T, p.Arg684Cys) and a maternally inherited 505-kb duplication of uncertain significance at 2p23.3 (encompassing five genes, including DNMT3A) who presented with intrauterine growth restriction, slow postnatal growth, short stature, hypotonia, developmental delay, and neuroblastoma diagnosed at the age of 8 mo. Her father had tall stature, dysmorphic facial features, and intellectual disability consistent with Weaver syndrome, whereas her mother had short stature, cognitive delays, and chronic nonprogressive leukocytosis. It has been previously shown that EZH2 directly controls DNA methylation through physical association with DNMTs, including DNMT3A, with concomitant H3K27 methylation and CpG promoter methylation leading to repression of EZH2 target genes. Interestingly, NSD1 is involved in H3K36 methylation, a mark associated with transcriptional activation, and exhibits exquisite dosage sensitivity leading to overgrowth when deleted and severe undergrowth when duplicated in vivo. Although there is currently no evidence of dosage effects for DNMT3A, the co-occurrence of a duplication involving this gene and a pathogenic alteration in EZH2 in a patient with severe undergrowth is suggestive of a similar paradigm and further study is warranted.
...
PMID:Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect? 2980 53