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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A questionnaire survey of 74 parents of children with Down syndrome was conducted. Results indicated that adenotonsillectomy benefited their children by eliminating or reducing the symptoms of snoring, sleep apnea, nasal drainage, and mouth breathing. On the basis of parental responses, it appears that in the absence of nasal obstruction, adenotonsillectomy fails to improve drooling or tongue protrusion. Adenoid tissue is physiologically important to the child with Down syndrome and its removal can result in hypernasality. Two children in the survey sample who underwent adenoidectomy and/or tonsillectomy developed this complication. They were given complete speech and language testing and evaluated with cinefluoroscopy. Both structural and functional causes of hypernasality were identified. Structural abnormalities included a high-arched short hard palate and a short soft palate. Hypotonia, slowed motor learning, and oral motor developmental delay were confounding functional factors in these patients. The incidence of postoperative hypernasality found in these patients is higher than in the general population and should be an important consideration before performing an adenoidectomy.
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PMID:Risks and benefits of adenotonsillectomy for children with Down syndrome. 294 58

We examined the development of neural control processes underlying stance balance in both developmentally normal children and children with Down syndrome to test the hypothesis that motor deficiencies in children with Down syndrome are associated with deficits within the automatic postural control system. We compared children with Down syndrome and developmentally normal children in two age groups (1-3 and 4-6 years) by using displacements of a platform and measuring electromyograms from leg muscles. The automatic muscle response pattern in both normal children and children with Down syndrome were directionally specific, although the pattern were more variable than in adults. Responses in children with Down syndrome showed no adaptive attenuation to changing task conditions. Onset latencies of responses in children with Down syndrome were significantly slower than in normal children. Presence of the monosynaptic reflex during platform perturbations at normal latencies suggests that balance problems in children with Down syndrome do not result from hypotonia, which researchers have defined as decreased segmental motoneuron pool excitability and pathology of stretch reflex mechanisms, but rather result from defects within higher level postural mechanisms.
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PMID:Dynamics of postural control in the child with Down syndrome. 316 78

Three women with neurohypophyseal diabetes insipidus, treated for prolonged periods, including pregnancy, with L-deamino-8-d-arginine vasopressin, gave birth in our hospital. Two of the infants had severe congenital heart disease, one of which was associated with trisomy 21. The third baby, born prematurely, presented with mild intrauterine growth retardation; at the age of 21 months, the boy had severe failure to thrive, hypotonia, and motor retardation. These three cases raise doubts as to the safety of diabetes insipidus or its treatment in pregnancy.
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PMID:L-deamino-8-d-arginine vasopressin treatment in pregnancy and neonatal outcome. A report of three cases. 371 35

Eversion of the lids at birth is a rare condition of debated etiology. It has been attributed most frequently to birth trauma or to congenital lid hypotonia. Most reported cases have been treated by immediate taping of the lids or by surgery (tarsorraphy, intermarginal sutures, and/or plastic procedures). A prominent association with Down's syndrome has been noted. We report a normal infant, born by Caesarean section, with bilateral upper eyelid eversion which subsided spontaneously after treatment only with lubricants. A prominent spastic ectropion component was observed. Lid laxity appeared to be an effect rather than a cause of the eversion, and disappeared as the condition improved. Management should take into account the duration of total occlusion caused by this abnormality.
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PMID:Congenital eyelid eversion with orbicularis spasm. 403 86

An infant chimpanzee (Pan troglodytes) with clinical, behavioral, and cytogenetic features similar to those in Down's syndrome is described. The infant shows retarded growth rate, congenital abnormalities, retarded neurologic and postural development, epicanthus, hyperflexibility of the joints, muscle hypotonia, and trisomy of a small acrocentric chromosome.
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PMID:Autosomal trisomy in a chimpanzee: resemblance to Down's syndrome. 424 Sep 70

The phenotypic features of Down's syndrome are easily recognized and include characteristic facial features, hypotonia, ligament laxity, transverse palmar creases and mental subnormality. Associated manifestations and complications are also familiar and involve almost every organ system. Congenital heart defects, bowel malformations and a tendency to leukemia are common attendant problems. Less common, however, are defects of the skeletal system; in fact, the most recent edition of a standard pediatric textbook makes no mention of anomalies of the vertebral column. The purpose of this paper is to call attention to the association between Down's syndrome and atlantoaxial dislocation, which in our patient resulted in quadriplegia and eventually death.
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PMID:Atlantoaxial dislocation and Down's syndrome. 644 87

Experience with a score based on eight signs of Down syndrome is described. The signs are: (1) abundant neck skin, (2) mouth corners turned downward, (3) general hypotonia (4) flat face, (5) dysplastic ear, (6) epicanthic eye-fold, (7) gap between first and second toes, (8) protruding tongue. Examination was done in the first week of life of the newborn to evaluate his score. About five minutes were spent to score a child. An infant with a score of 6, 7, or 8 (showing 6, 7, or 8 signs) is considered clinically proven Down syndrome. When an infant has a score of 0, 1, or 2, the diagnosis is disproved. No false positive or false negative were observed among approximately 19,000 liveobrn infants born in this hospital in a five-year period (1973--1977). All the thirty infants where the diagnosis was considered were karyotyped, twenty-six had regular trisomy 21, and four had a normal karyotype. Of the twenty-one initially suspected cases who were checked for the score, twenty had a score of 6--8 (all had a karyotype of trisomy 21), only one had a score of 0--2 (she had a normal karyotype), and eight had a score of 3--5. This last group is heterogenous as it included five affected infants and three children with a normal karyotype and is the only group where cytogenetic investigation is indicated for diagnostic purposes. It is suggested that this score should be used routinely for the clinical evaluation of every newborn where the possibility of a diagnosis of Down syndrome has been raised.
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PMID:A score based on eight signs in the diagnosis of Down syndrome in the newborn. 644 99

Bejar et al. described increased concentrations of valine, leucine and isoleucine in the plasma of 2 patients with cerebral gigantism (Sotos-syndrome). We have recently investigated a group of 14 children with Sotos-syndrome. The data of the plasma amino-acid determinations were compared with those of aged-matched healthy controls, 9 children with benign muscular hypotonia, 10 children with Down's syndrome and finally with those of 13 children with familial tall stature. The mean concentration of serine, glutamic acid, valine, isoleucine, leucine and phenylalanine was lower in the patients with Sotos-syndrome when compared to the healthy control group. However, all patients with benign muscular hypotonia and Down's syndrome showed increased concentrations of proline, glycine, alanine, ornithine and lysine in the plasma whereas the mean values of the children with familial tall stature differed only slightly from those of the controls. The levels of the plasma-aminoacids in patients with Sotos-syndrome were only slightly different from those in patients with muscular hypotonia, but generally lower than in tall children. We conclude that the determination of plasma-aminoacids is of no value in the diagnosis of Sotos-syndrome.
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PMID:[Amino acids in plasma of patients with cerebral gigantism (Sotos syndrome) (author's transl)]. 645 99

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

Phenotypic and molecular analysis of individuals with partial trisomy 21 can be used to determine which regions of chromosome 21 are involved in the pathogenesis of specific features of Down's Syndrome. Using dosage analysis of 27 sequences we defined, at the molecular level, the extent of the chromosome 21 duplication in ten individuals with partial trisomy 21. Phenotype-genotype correlations led to the definition of minimal regions, the duplications of which are linked to the expression of 23 clinical features of Down's Syndrome. The D21S55 region or Down's Syndrome Chromosome Region 1 (DCR1) (1/20 of the long arm), on 21q22.2-21q22.3 proximal, is involved in four cardinal features of the disease: mental retardation, growth retardation, muscular hypotonia and joint hyperlaxity, and in eight of the 18 more common morphological anomalies of the face, hands and feet. Overlapping the DCR1, the D21S55-MX1 region or DCR2 (1/10 of the long arm), spanning 21q21.2 down to the 1/4th proximal part of 21q22.3, is involved in the features defined by the DCR1 plus congenital heart defect and five additional morphological anomalies. Thus, our results indicate that duplication of a relatively small region of chromosome 21 plays a critical role in the pathogenesis of the Down's phenotype.
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PMID:Mapping of the Down syndrome phenotype on chromosome 21 at the molecular level. 799 86


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