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)

Patchy fibrin is normally present beneath the chorionic plate of the placenta. The present study attempted to determine whether it has any clinical significance. In 31,622 placentas the amount of this fibrin was related to markers of fetal activity. Fibrin was often absent when the markers indicated hypoactivity. The markers of fetal hypoactivity were neonatal hypotonia, neonatal lethargy, the presence of Down's syndrome, and a short umbilical cord. Umbilical cord length is strongly influenced by tension applied to it by fetal movements--the fewer the movements, the shorter the cord. Children with no subchorionic fibrin subsequently had increased frequencies of cerebral palsy and low intelligence quotient values. Children who were hyperactive at one year of age had increased levels of subchorionic fibrin, which suggests that they were hyperactive before birth. All of these findings raise the possibility that normal fetal movements sometimes traumatize the placenta, which leads to fibrin deposits beneath its surface.
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PMID:The clinical significance of absent subchorionic fibrin in the placenta. 237 74

A 3 year old girl with Down's syndrome became lethargic and withdrawn, and investigations showed a specific malabsorption of vitamin B12 without proteinuria.
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PMID:Specific malabsorption of vitamin B12 in Down's syndrome. 294 Sep 80

Four infants with Down syndrome developed cor pulmonale and heart failure in association with chronic upper airway obstruction. Features of the sleep apnea syndrome were conspicuous; namely, noisy breathing with retraction, cyanosis and frequent apnea during sleep, and daytime lethargy and somnolence. The clinical picture masqueraded as cyanotic congenital heart disease. Arterial blood gas analyses revealed alveolar hypoventilation, especially during sleep. The nature of the obstructive element was variable. Adenoidectomy provided partial relief in one patient, and tonsillectomy and adenoidectomy resulted in temporary improvement in two others. Three patients were markedly benefitted by tracheostomy. Functional inspiratory pharyngeal closure was demonstrated fluorographically in one patient. Infants with Down syndrome may be predisposed to upper airway obstruction by virtue of hypoplasia of facial and oropharyngeal structures and generalized hypotonia. Additional obstructive elements may be contributed by hypertrophied lymphoid tissue, excessive secretions, and glossoptosis. Removal of the obstructive element is helpful, but functional obstruction may only be relieved by tracheostomy.
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PMID:Alveolar hypoventilation and cor pulmonale associated with chronic airway obstruction in infants with Down syndrome. 645 3

The present study investigates the occurrence of daytime behaviour problems and maternal stress in a group of children with Down's syndrome (DS) compared with a group of their non-intellectually disabled siblings, a group of non-intellectually disabled children from the general population and a group of children with an intellectual disability other than Down's syndrome. The Aberrant Behavior Checklist (ABC) and the Malaise Inventory were completed by the mothers. Associations between daytime behaviour problems and maternal stress were also explored. Overall, the children with DS and the children with other intellectual disabilities showed significantly higher rates of behavioural disturbance on all five of the ABC subscales (Irritability, Lethargy, Stereotypies, Hyperactivity and Inappropriate Speech) and on the Total ABC score. However, the children with other intellectual disabilities also showed significantly higher scores than the children with DS on four of the ABC subscales: Irritability, Lethargy, Stereotypies and Hyperactivity, as well as the Total ABC score. The siblings and children from the general population showed very similar behaviour scores. A number of significant age and sex differences were found in the occurrence of daytime behaviour problems. Maternal stress was significantly higher in the group with other forms of intellectual disability than the other three groups, and a number of significant associations were found between parental ratings of daytime behaviour problems and maternal stress in all four samples. The implications of the findings are discussed, including the need for early assessment to minimize adverse effects on the child's development and on family life.
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PMID:Daytime behaviour problems and maternal stress in children with Down's syndrome, their siblings, and non-intellectually disabled and other intellectually disabled peers. 967 7

To report on the cognitive and behavioral attributes of 61 children with Down syndrome (DS) and autistic-spectrum disorder (ASD) according to DSM-IV criteria; to determine the utility of the aberrant behavior checklist (ABC) to characterize these subjects for research purposes; and to test the hypothesis that subjects with DS + ASD could be distinguished from their typical DS peers using the ABC. Cross-sectional design. Cases with DS + ASD (N = 61), comparison group of DS + stereotypy movement disorder (SMD) (N = 26) and typical DS controls without behavior problems (N = 44) were ascertained and enrolled sequentially upon presentation to a DS clinic at an academic medical center over a 10-year period from 1991 to 2001. All subjects underwent neurodevelopmental and medical evaluation, and standardized cognitive testing. The parents provided responses to standardized behavioral questionnaires. Cognitive function (IQ) differed markedly across the three groups. The Lethary and Stereotypy subscales of the ABC were highly significant (P < 0.001) in distinguishing the three groups from one another. Within the ASD group differences were apparent by DSM-IV type on the Lethargy subscale, which reached significance, ANOVA (F = 0.002) and t-test (Autism > PDD, P = 0.005; PDD < CDD, P = 0.002). Using a multivariate regression model, the ABC scales alone explained 62% of variance of ASD outcome; addition of demographic variables explained up to 68% of the variance. There is good correlation between DSM-IV criteria for autism and subscales scores on the ABC in subjects with DS. This study demonstrates the feasibility of using the ABC to characterize the neurobehavioral phenotype of a cohort of children with trisomy 21 and ASD for ongoing research purposes.
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PMID:Down syndrome and comorbid autism-spectrum disorder: characterization using the aberrant behavior checklist. 1575 62

The Smith-Magenis syndrome is a rare, complex multisystemic disorder featuring, mental retardation and multiple congenital anomalies caused by a heterozygous interstitial deletion of chromosome 17p11.2. The phenotype of Smith-Magenis syndrome is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and growth retardation, and a 24-hour sleep disturbance. A striking neurobehavioral pattern of stereotypies, hyperactivity, polyembolokoilamania, onychotillomania, maladaptive and self-injurious and aggressive behavior is observed with increasing age. The diagnosis of Smith-Magenis syndrome is based upon the clinical recognition of a constellation of physical, developmental, and behavioral features in combination with a sleep disorder characterized by inverted circadian rhythm of melatonin secretion. Many of the features of Smith-Magenis syndrome are subtle in infancy and early childhood, and become more recognizable with advancing age. Infants are described as looking "cherubic" with a Down syndrome-like appearance, whereas with age the facial appearance is that of relative prognathism. Early diagnosis requires awareness of the often subtle clinical and neurobehavioral phenotype of the infant period. Speech delay with or without hearing loss is common. Most children are diagnosed in mid-childhood when the features of the disorder are most recognizable and striking. While improvements in cytogenetic analysis help to bring cases to clinical recognition at an earlier age, this review seeks to increase clinical awareness about Smith-Magenis syndrome by presenting the salient features observed at different ages including descriptions of the neurologic and behavioral features. Detailed review of the circadian rhythm disturbance unique to Smith-Magenis syndrome is presented. Suggestions for management of the behavioral and sleep difficulties are discussed in the context of the authors' personal experience in the setting of an ongoing Smith-Magenis syndrome natural history study.
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PMID:Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). 1664 92

The present study extends our previous work characterizing the behavioral features of autistic-spectrum disorder (ASD) in Down syndrome (DS) using the Aberrant Behavior Checklist (ABC) and Autism Behavior Checklist (AutBehav). We examined which specific behaviors distinguished the behavioral phenotype of DS + ASD from other aberrant behavior disorders in DS, by determining the relative contribution of ABC and AutBehav subscales and items to the diagnosis of ASD. A total of 127 subjects (aged 2-24 years; mean age: 8.4 years; approximately 70% male), comprising: a cohort of 64 children and adolescents with DS and co-morbid ASD (DS + ASD), 19 with DS and stereotypic movement disorder (DS + SMD), 18 with DS and disruptive behaviors (DS + DB), and 26 with DS and no co-morbid behavior disorders (DS + none) were examined using the aforementioned measures of aberrant behavior. We found that subjects with DS + ASD showed the most severe aberrant behavior, especially stereotypy compared to DS + none and lethargy/social withdrawal and relating problems compared to DS + SMD. Specifically, relatively simple stereotypic behavior differentiated DS + ASD from DS + DB, whereas odd/bizarre stereotypic and anxious behavior characterized DS + ASD relative to DS + SMD and DS + none. Additionally, in a subset of subjects with DS + ASD and anxiety, social withdrawal was particularly pronounced. Overall, our findings indicate that a diagnosis of DS + ASD represents a distinctive set of aberrant behaviors marked by characteristic odd/bizarre stereotypic behavior, anxiety, and social withdrawal.
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PMID:Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalities. 1695 28

A 54-year-old man with Down's syndrome presented with petechiae, hypoxia and lethargy due to a collum fracture and a secondary fat embolism syndrome.
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PMID:[Diagnostic image (352). A man with spots, dyspnoea and lethargy]. 1822 90

A major goal of aging research is to identify early markers of age-related cognitive decline. Persons with Down syndrome (DS) experience accelerated aging and high risks for dementia, making them a valuable albeit understudied model for testing such markers. This study examined event-related potential (ERP) indices of visual memory in younger (19-25 years) and older (35-40 years) adults with DS using a passive viewing paradigm that did not require memorization or behavioral responses. ERPs were recorded in response to unfamiliar urban and nature scenes, with some images presented once and others repeated multiple times. Within 600 to 900 milliseconds after stimulus onset, repeated stimuli elicited more positive amplitudes in younger participants, indicating stimilus recognition. ERPs of older adults did not show such increases, suggesting reduced memory functioning. ERP indices were unrelated to participants' intellectual functioning, but did correlate with age and caregiver-reported lethargy/withdrawal behaviors. Passive ERP measures of memory processes are sensitive to early stages of cognitive decline in DS and are promising markers of cognitive risk for future aging studies.
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PMID:Event-related potential index of age-related differences in memory processes in adults with Down syndrome. 2399 3