Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cyclic vomiting syndrome (CVS), characterized by severe discrete episodes of nausea, vomiting, and lethargy, is a fairly common, disabling, predominately-childhood condition most often associated with migraine and dysautonomic features. Our group recently reported that children with CVS and additional neuromuscular disease manifestations demonstrate strong maternal inheritance of multiple disease manifestations and abnormal urine organic acids, suggesting the presence of predisposing mitochondrial DNA (mtDNA) sequence variants. In order to determine if maternal inheritance is present in CVS in general, a clinical interview was administered regarding 80 unrelated individuals with CVS ascertained randomly from the database of the Cyclic Vomiting Syndrome Association (CVSA). Disease manifestations consistent with potential mitochondrial dysfunction were far more common in matrilineal (sharing the same mtDNA sequence) versus in non-matrilineal relatives, including mothers versus fathers (P = 3 x 10(-9)) and maternal versus paternal grandmothers (P = 2 x 10(-6)). Maternal inheritance is suggested in 52% of the 23 subjects with two or more neuromuscular abnormalities ("CVS+") and in 54% of the 44 subjects without any neuromuscular abnormalities ("CVS-"). In both the CVS+ and CVS- sub-groups, subjects, and affected matrilineal relatives of all ages suffer at a far higher incidence from several dysautonomic-related conditions, including migraine and irritable bowel, as well as depression and hypothyroidism, while neuromuscular and cognitive disorders such as hypotonia and ADHD are common only in affected children. We conclude that mtDNA sequences predispose towards the development of protean disease manifestations in CVS patients ascertained through a disease-specific association, as well as among their matrilineal relatives, whether or not neuromuscular disease is present in the proband. Since CVS was absent in all but one matrilineal relative of our probands, CVS is apparently a rare clinical presentation in individuals carrying the predisposing mtDNA sequences. The four conditions reported most frequently among the matrilineal relatives of our cases, migraine, depression, irritable bowel, and hypothyroidism, are known to segregate together in families, and our findings suggest that a common predisposing genetic factor is likely present on the mtDNA.
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PMID:Maternal inheritance in cyclic vomiting syndrome. 1564 22

Most previous studies of attention deficit in ADHD and schizophrenia have used overall measures of inattention that may disguise differences in underlying mechanisms. The present study investigated types of inattentive errors and applied a process view of attention in analyses of Conners' Continuous Performance Test protocols from subjects with ADHD-combined (51), inattentive type (19) and schizophrenia (26). Subjects with ADHD-I had more omission errors and became more inattentive as a function of time on task. Subjects with ADHD-C made more errors of commissions as time passed. In contrast, the performance of the subjects with schizophrenia improved, indicating a training effect. There were no differences in overall attentiveness between the groups. Although all groups were impaired on an overall level, they displayed three distinct patterns of inattention. The ADHD-I group displayed a lethargic inattention characterized by high fatigue. The ADHD-C group showed a hyperactive-impulsive pattern, while the schizophrenia group showed an inability to initially focus attention.
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PMID:Differentiating attention deficit in adult ADHD and schizophrenia. 1764 Aug 49

Abusive head trauma (AHT) is the leading cause of death from traumatic brain injury in under 2 year olds. AHT presents with acute encephalopathy, subdural hemorrhages and retinal hemorrhages occurring in the context of an inappropriate or inconsistent history. We retrospectively analyzed, over a 10 year period, admissions and transfers to our hospital with suspected AHT to assess patterns of presentation, presenting symptoms, investigations, subsequent confirmation, social work input and both neurological and social outcomes. We analyzed all suspected AHT infants and children looking for the time of presentation, presenting symptoms, caregivers concerns prior to presentation, a family profile including stressors, investigations (in particular neuroradiology and ophthalmology assessments), treatment in hospital, length of stay in hospital, social work involvement, subsequent discharge, neurological outcome and subsequent social work follow up. Data was collected from the hospital HIPE system, RIS (radiology reports system) and records from the social work department from a period October 1998 to January 2009 inclusive. Of 22 patients with confirmed AHT, ages seizures and irritability followed by vomiting, poor feeding, a bulging fontanelle and lethargy. The father was the sole minder in 5 cases. There was a delayed history in 4 cases. One had multiple visits to his GP. All cases had subdural hemorrhages proven by either CT or MRI scans and retinal hemorrhages diagnosed by ophthalmology. One infant presented with a torn frenulum. Four had suspicious bruising. All had normal coagulation profiles, skeletal surveys and extensive metabolic tests. Hospital stays ranged from 1 to 124 days (the median was 28 days and mean 33 days). Ten (45%) infants required ventilatory support. Sixteen infants had social work involvement within 4 days of admission (7 of these were interviewed immediately). Outcomes after case conferences were that 6 returned home with parents, 9 were placed in foster care. Four parents (18%) admitted to shakng their infants. There was 1 death. Thirteen (60%) were normal on follow up. Two had ADHD. Two had language delay. Two had motor delay. One criminal prosecution has ensued as yet Children with suspected AHT should undergo appropriate investigations which should include brain imaging, ophthalmic examination, skeletal survey and blood investigations. Early social work assessment is a priority as part of the multidisciplinary approach. A prospective national study of AHT is required.
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PMID:Medical, social and societal issues in infants with abusive head trauma. 2048 11

The presence of neurocognitive late effects in survivors of pediatric brain tumors is well established. However, there remains some debate about how best to conceptualize these deficits. Sluggish cognitive tempo (SCT) is a proposed conceptual framework that has been used to describe a subset of children with ADHD who exhibit a particular profile characterized by lethargy, day dreaming and staring, and poor organization. Previous work has suggested that survivors of leukemia exhibit a similar profile, but it has not yet been examined in survivors of pediatric brain tumors. A sample of 65 survivors of pediatric brain tumors, 25 survivors of leukemia and 50 community controls completed the Child Behavior Checklist, with four items used to measure SCT. Survivors completed additional measures of neurocognitive functioning. Survivors of brain tumors demonstrated significantly greater symptoms of SCT than survivors of leukemia or controls. SCT was associated with attention problems and working memory deficits and the presence of a VP-shunt. Results provided conditional support for the presence of SCT in survivors of brain tumors, with further research needed to determine the clinical utility of the framework.
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PMID:Sluggish cognitive tempo in survivors of pediatric brain tumors. 2366 Nov 2