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1.
J Laryngol Otol ; 122(12): 1318-24, 2008 Dec.
Article in English | MEDLINE | ID: mdl-18577269

ABSTRACT

OBJECTIVE: Phenotypical Down syndrome includes pharyngeal and maxillary hypoplasia and, frequently, constricted maxillary arch with nasal obstruction. STUDY DESIGN: This clinical trial assessed the effects of rapid maxillary expansion on ENT disorders in 24 children with Down syndrome randomly allocated to receive either rapid maxillary expansion or not. Each group received ENT and speech therapy assessments before expansion and after the device had been removed. RESULTS: In the rapid maxillary expansion group, the yearly ENT infection rate was reduced when assessed after device removal (p < 0.01). The parents of rapid maxillary expansion children reported a reduction in respiratory obstruction symptoms. Audiological assessment revealed improvements in the rapid maxillary expansion group (p < 0.01). Cephalometry showed increased maxillary width in the rapid maxillary expansion group. CONCLUSIONS: Rapid maxillary expansion resulted in a reduction in hearing loss, yearly rate of ENT infections and parentally assessed symptoms of upper airway obstruction, compared with no treatment. These findings are probably related to expanded oronasal space, due to rapid maxillary expansion.


Subject(s)
Down Syndrome/complications , Otorhinolaryngologic Diseases/therapy , Palatal Expansion Technique , Sleep Apnea, Obstructive/therapy , Cephalometry/methods , Child , Child, Preschool , Down Syndrome/therapy , Esthetics , Female , Humans , Male , Orthodontic Appliances/statistics & numerical data , Palatal Expansion Technique/instrumentation , Parents , Treatment Outcome
2.
J Inherit Metab Dis ; 25(7): 599-600, 2002 Nov.
Article in English | MEDLINE | ID: mdl-12638945

ABSTRACT

A group of 28 patients with inherited metabolic disease (homocystinuria galactosaemia, maple syrup urine disease and biotinidase deficiency) diagnosed by screening were compared with a group of 17 similar patients identified clinically. The rate of hospitalization was similar for the two groups. The patients diagnosed clinically showed a higher incidence of mental retardation and their parents experienced greater stress and found greater difficulty in meeting their child's needs.


Subject(s)
Metabolism, Inborn Errors/diagnosis , Neonatal Screening , Adolescent , Biotinidase Deficiency/diagnosis , Child , Child, Preschool , Galactosemias/diagnosis , Homocystinuria/diagnosis , Humans , Infant , Infant, Newborn , Maple Syrup Urine Disease/diagnosis , Outcome Assessment, Health Care
3.
Free Radic Biol Med ; 31(4): 499-508, 2001 Aug 15.
Article in English | MEDLINE | ID: mdl-11498283

ABSTRACT

Thirty-seven individuals with Down syndrome (DS) were divided into four age categories: (i) 1 to < 6 years, (ii) 6 to < 13 years, (iii) 13 to < 20 years, and (iv) over 20 years. Activities of antioxidant enzymes found in individual age categories were different, but the differences between age groups were not statistically significant. We confirmed significantly higher activities of Cu/Zn superoxide dismutase (SOD) and glutathione peroxidase (GPx) in blood cells of people with DS as compared to 35 controls, which consisted, for the first time, of siblings of children with DS. No significant differences were found in activities of catalase and glutathione reductase in DS vs. controls. A significant difference was observed in serum concentration of malondialdehyde (MDA) in DS vs. controls (8.39 +/- 0.34 micromol/l vs. 7.34 +/- 0.27 micromol/l; p = .021) and concentration of MDA in erythrocytes of individuals with DS between the third and fourth age group (p = .05). In DS persons, an elevated ratio of SOD to catalase plus GPx with respect to the controls in all age categories was found, suggesting oxidative imbalance, potentially contributing to accelerated aging observed in these persons.


Subject(s)
Aging/metabolism , Catalase/blood , Down Syndrome/enzymology , Erythrocytes/enzymology , Lipid Peroxides/metabolism , Neutrophils/enzymology , Oxidoreductases/metabolism , Adolescent , Adult , Catalase/metabolism , Child , Child, Preschool , Glutathione Peroxidase/metabolism , Glutathione Reductase/metabolism , Humans , Infant , Oxidation-Reduction , Peroxidase/metabolism , Superoxide Dismutase/metabolism
4.
Hum Mutat ; 17(1): 77-8, 2001.
Article in English | MEDLINE | ID: mdl-11139256

ABSTRACT

Galactokinase deficiency is an inborn error of galactose metabolism whose major clinical manifestation is the development of cataracts during the first months of life. Only 20 mutations have been reported to date and understanding of the functionally important domains of the galactokinase protein is still limited. Here we report four novel mutations in GALK1 that were identified in two unrelated patients with galactokinase deficiency. Three of these were amino acid substitutions: 1569C-->T in exon 2 (R68C); 7093C-->T in exon 6 (T288M) and 7538G-->C in exon 8 (A384P). In addition, a single base-pair deletion was found in exon 5 (2833delC), predicted to result in a shift of the reading frame and a premature termination codon at position 263. Some differences with the GALK1 sequence deposited in Genbank are also reported.


Subject(s)
Galactokinase/deficiency , Galactokinase/genetics , Galactosemias/enzymology , Galactosemias/genetics , Mutation/genetics , Adolescent , Adult , Alanine/genetics , Amino Acid Sequence , Amino Acid Substitution/genetics , Animals , Arginine/genetics , Child, Preschool , Cysteine/genetics , Female , Humans , Male , Methionine/genetics , Mice , Molecular Sequence Data , Proline/genetics , Sequence Deletion , Threonine/genetics
5.
Acta Paediatr ; 88(9): 953-6, 1999 Sep.
Article in English | MEDLINE | ID: mdl-10519335

ABSTRACT

In order to estimate the prevalence of celiac disease in persons with Down syndrome, 105 patients with this chromosomal disorder residing on the East Coast of the United States of America were enrolled in this study. IgA and IgG antigliadin antibodies (AGA) were determined using a fluorescent immunoenzymatic assay, and antiendomysium antibodies (AEA) were measured with immunofluorescence on monkey oesophagus. Of the 105 patients, 5 were positive for AEA, 4 were positive for IgG AGA, and 1 was positive for IgG AGA and AEA. Of the five patients with high titres of AEA, four consented to a jejunal biopsy, which revealed significant villous atrophy. Thus, 4 (possibly 5) patients in this cohort of 105 individuals with Down syndrome have celiac disease.


Subject(s)
Autoantibodies/blood , Celiac Disease/epidemiology , Down Syndrome/complications , Immunoglobulin A/blood , Immunoglobulin G/blood , Adolescent , Adult , Celiac Disease/complications , Celiac Disease/immunology , Child , Child, Preschool , Female , Gliadin/immunology , Humans , Male , Muscle Fibers, Skeletal/immunology , Prevalence , Reference Values , United States/epidemiology
6.
Br J Ophthalmol ; 83(10): 1112-4, 1999 Oct.
Article in English | MEDLINE | ID: mdl-10502568

ABSTRACT

BACKGROUND/AIMS: Amblyopia in people with Down's syndrome has not been well investigated. This study was designed to determine the prevalence and associated conditions of amblyopia in a group of home reared children with Down's syndrome. METHODS: All children in the study group underwent an evaluation of visual acuity. In addition, previous ophthalmological records were reviewed, and a subgroup of children was examined. For the purposes of this study, amblyopia was defined quantitatively as a difference of two Snellen acuity lines between eyes or if unilateral central steady maintained (CSM) vision and a clear fixation preference was observed. A high refractive error was defined as a spherical equivalent more than 3 dioptres and astigmatism more than 1.75 dioptres. Anisometropia was defined as a difference of at least 1.5 dioptres of sphere and/or 1.0 dioptre of cylinder between eyes. 68 children with Down's syndrome between the ages of 5 and 19 years were enrolled in the final study group. RESULTS: Amblyopia was observed in 15 (22%) of 68 patients. An additional 16 (24%) patients had bilateral vision less than 20/50. Strabismus, high refractive errors, and anisometropia were the conditions most commonly associated with decreased vision and amblyopia CONCLUSION: This study suggests that the prevalence of amblyopia is higher than previously reported. Fully 46% of these children with Down's syndrome had evidence of substantial visual deficits. These patients may be at higher risk for visual impairment and should be carefully examined for ophthalmological problems.


Subject(s)
Down Syndrome/complications , Vision Disorders/etiology , Visual Acuity , Adolescent , Amblyopia/etiology , Amblyopia/physiopathology , Anisometropia/etiology , Child , Down Syndrome/physiopathology , Humans , Refractive Errors/etiology , Strabismus/etiology
8.
Mutat Res ; 403(1-2): 35-43, 1998 Jul 17.
Article in English | MEDLINE | ID: mdl-9726004

ABSTRACT

People with Down syndrome are 10-30 fold more likely to develop leukemia than the normal population. To date, little is known regarding the molecular mechanisms underlying this phenomenon. We have previously demonstrated that the spontaneous somatic mutant frequency (Mf) at a reporter gene, hypoxanthine-guanine phosphoribosyl transferase (HPRT), from a normal population showed a strict age dependency with an exponential increase in Mf from birth to late adolescents with a subsequent linear 2-5% increase per year in adults. In this study, we compared HPRT Mf in children and adults with Down syndrome using the HPRT T-cell cloning assay. We determined the Mf at the HPRT locus in 27 subjects with Down syndrome from ages 6 months to 53.4 years. Results demonstrated that background somatic Mf at the HPRT locus in children and adults with Down syndrome are not dependent on age as seen in a normal control population. Results also show that adults with Down syndrome have a significantly lower Mf than normal adults, and that children with Down syndrome have a significantly higher Mf than normal children, although the latter appears to be due to a decreased cloning efficiency (CE). These observations demonstrate that the frequency of spontaneous somatic mutations in children and adults with Down syndrome are atypical compared to normal controls, and suggest that the genetic mechanisms associated with background somatic mutational events in children and adults with Down syndrome may be different.


Subject(s)
Down Syndrome/enzymology , Down Syndrome/genetics , Hypoxanthine Phosphoribosyltransferase/genetics , Mutation , Adolescent , Adult , Age Factors , Case-Control Studies , Child , Child, Preschool , DNA Damage , DNA Repair , Down Syndrome/complications , Female , Genes, Reporter , Humans , Infant , Leukemia/etiology , Leukemia/genetics , Male , Middle Aged , T-Lymphocytes/enzymology
9.
Arch Pediatr Adolesc Med ; 152(2): 123-5, 1998 Feb.
Article in English | MEDLINE | ID: mdl-9491036

ABSTRACT

In 1995, the Committee on Sports Medicine and Fitness of the American Academy of Pediatrics (AAP) published a position paper on atlantoaxial instability in children with Down syndrome in which a previous statement on the same subject published in 1984 (Table) was retired. The 1995 statement includes several arguments that disfavor screening of children with Down syndrome for atlantoaxial instability. Whereas some of these arguments are well founded, other lack substantive evidence that would support the statement. In the following discussion, I attempt to analyze some of these arguments made in the 1995 statement and provide a viewpoint that favors radiologic examinations of the cervical spine of children with Down syndrome.


Subject(s)
Atlanto-Axial Joint/diagnostic imaging , Down Syndrome/complications , Down Syndrome/diagnostic imaging , Joint Instability/diagnostic imaging , Mass Screening , Child , Child, Preschool , Humans , Joint Instability/genetics , Mass Screening/methods , Pediatrics , Practice Guidelines as Topic , Radiography , Societies, Medical , Sports Medicine , United States
10.
Downs Syndr Res Pract ; 5(1): 43-6, 1998.
Article in English | MEDLINE | ID: mdl-10890860

ABSTRACT

This paper outlines the risk of mental health disorders in adults with Down syndrome and considers the practical ways in which positive well-being can be promoted. It emphasises that prevention begins at birth and parents need to be alerted to positive child-rearing strategies from infancy.


Subject(s)
Down Syndrome/psychology , Mental Health , Counseling , Freedom , Humans , Mental Competency , Mental Disorders/prevention & control , Mental Disorders/therapy , Parents , Recreation , Self Concept
11.
Childs Nerv Syst ; 11(11): 639-42, 1995 Nov.
Article in English | MEDLINE | ID: mdl-8608580

ABSTRACT

An infant with Zellweger syndrome is reported. A detailed description of the clinical findings is provided. In particular, the neuropathological aspects are highlighted and the underlying biochemical derangements discussed. In addition, some of the known pathogenetic mechanisms that are involved in producing the phenotype of Zellweger syndrome are analyzed.


Subject(s)
Zellweger Syndrome/diagnosis , Chromosome Aberrations/genetics , Chromosome Disorders , Fatal Outcome , Female , Humans , Infant, Newborn , Karyotyping , Liver/chemistry , Peroxisomal Disorders/diagnosis , Phenotype , Zellweger Syndrome/genetics
12.
Acta Paediatr ; 84(7): 823-7, 1995 Jul.
Article in English | MEDLINE | ID: mdl-7549308

ABSTRACT

There are numerous clinical conditions observed in persons with Down syndrome, as described above, which should be taken into consideration in the course of their medical care and management. If provided with optimal medical services, pursuing specific evaluations and examinations, with a focus on preventive aspects and fostering well being in all areas of human functioning, the quality of life of individuals with Down syndrome can be enhanced significantly and their contribution to society substantial.


Subject(s)
Down Syndrome/therapy , Adolescent , Adult , Age Factors , Child , Child, Preschool , Counseling , Down Syndrome/complications , Down Syndrome/diagnosis , Humans , Infant , Infant, Newborn
13.
Res Dev Disabil ; 16(4): 285-99, 1995.
Article in English | MEDLINE | ID: mdl-7480957

ABSTRACT

The clinical histories and treatment of the nine individuals with Down syndrome (DS) and major depression (MD) previously noted in a report on the psychopathology of a population of 164 adults with DS with and without health disorders from a Down Syndrome Clinic are presented (Myers & Pueschel, 1991). The clinical characteristics including DSM-III-R (1987) criteria of these 9 patients plus 13 individuals with DS and MD described in case reports in the literature are summarized. Depression is rarely verbalized and commonly appears as crying, depressed appearance, or mood lability. Vegetative symptoms of disinterest with severe withdrawal and mutism, psychomotor retardation, decreased appetite, weight loss, and insomnia are prominent. Verbal expression of preoccupations of suicide, death, self-depreciation, and guilt were infrequent and may either be not present or not reported due to mutism or moderate level of mental retardation (MR). Hallucinations were prominent. Family history of depression was infrequent. Psychological stressors were noted mostly in the study sample and not in the 13 from the literature. The pattern of vegetative symptomatology with few verbal complaints and prominent hallucinations may be related to moderate mental retardation in these groups with DS rather than specifically to DS.


Subject(s)
Depressive Disorder/psychology , Down Syndrome/psychology , Adjustment Disorders/diagnosis , Adjustment Disorders/psychology , Adult , Alzheimer Disease/diagnosis , Alzheimer Disease/psychology , Depressive Disorder/diagnosis , Diagnosis, Differential , Female , Follow-Up Studies , Humans , Male , Psychiatric Status Rating Scales
14.
Res Dev Disabil ; 16(1): 1-9, 1995.
Article in English | MEDLINE | ID: mdl-7701088

ABSTRACT

In a population of 425 individuals with Down syndrome, we observed 5 persons (1.2%) with Tourette's disorder. Because the prevalence of Tourette's disorder in the general population has been estimated to be between 0.03% and 1.6%, it is not likely that there is an increased prevalence of Tourette's disorder in Down syndrome, or that there is an interrelationship between Down syndrome and Tourette's disorder. This lack of relationship argues against an atypical Tourette's disorder. The absence of family histories of Tourette's disorder in our patients, the relatively late onset of the disorder in most of our patients, their previous treatment with neuroleptic and psychostimulant medication, and the lack of relationship between Down syndrome and Tourette's disorder in this Down syndrome population are factors that support the diagnosis of tardive Tourette's disorder.


Subject(s)
Down Syndrome/diagnosis , Tourette Syndrome/diagnosis , Adolescent , Adult , Age of Onset , Antipsychotic Agents , Child , Clonidine , Comorbidity , Diazepam , Down Syndrome/drug therapy , Down Syndrome/epidemiology , Female , Humans , Intellectual Disability , Male , Tourette Syndrome/drug therapy , Tourette Syndrome/epidemiology
15.
J Pediatr Orthop ; 14(3): 304-8, 1994.
Article in English | MEDLINE | ID: mdl-8006159

ABSTRACT

We endeavored to determine the prevalence of occipitoatlantal hypermobility in individuals with Down syndrome, to establish objective radiographic criteria for this entity, and to correlate this with neurologic abnormality. In a retrospective analysis, upper cervical spine radiographs of 210 patients with Down syndrome were compared with those of 102 normal individuals. Radiographs were evaluated using the Powers ratio. Patients identified with radiographic evidence of posterior occipitoatlantal hypermobility were then examined clinically and compared with a matched group of patients with Down syndrome and normal Powers ratios. Of the patients with Down syndrome, 8.5% had a Powers ratio of < 0.55, which was indicative of posterior occipitoatlantal hypermobility (POAH). Furthermore, 66% of those with an abnormal Powers ratio had positive neurologic findings upon physical exam, a finding that was statistically significant when compared to a matched group of patients with Down syndrome and normal Powers ratio.


Subject(s)
Atlanto-Occipital Joint/physiopathology , Down Syndrome/physiopathology , Joint Instability/physiopathology , Adolescent , Adult , Aged , Aged, 80 and over , Atlanto-Occipital Joint/diagnostic imaging , Child , Child, Preschool , Female , Humans , Joint Instability/diagnostic imaging , Male , Middle Aged , Radiography , Range of Motion, Articular , Retrospective Studies
16.
J Intellect Disabil Res ; 38 ( Pt 2): 195-202, 1994 Apr.
Article in English | MEDLINE | ID: mdl-8193455

ABSTRACT

This study was designed to investigate the family environment and the temperament of children with Down's syndrome (DS). Parents of 40 children with DS completed the Family Environmental Scale (FES). They also were asked to fill out the Temperament Assessment Battery for Children (TABC) for both the child with DS and the nearest same-sex sibling. A similar questionnaire of the TABC (teacher form) was sent to the children's teachers. The results of these investigations revealed that there were high scores in categories cohesion, expressiveness, achievement, moral/religious emphasis, organization and control on the FES, indicating that family members in the study cohort are relationship oriented, provide support for one another, emphasize ethical values and are able to express their feelings. Comparing TABC results between children with DS with their siblings, significant differences were observed in such categories as adaptability, approach/withdrawal and persistence. Control children were scoring higher in the adaptability and persistence categories, whereas children with DS achieved significantly higher scores than the control children in the approach/withdrawal category.


Subject(s)
Down Syndrome/psychology , Environment , Temperament , Adolescent , Child , Child, Preschool , Family , Female , Humans , Male , Surveys and Questionnaires
17.
Res Dev Disabil ; 15(2): 91-7, 1994.
Article in English | MEDLINE | ID: mdl-8085032

ABSTRACT

This study was designed to determine the prevalence of mitral valve prolapse and aortic insufficiency in home-reared, young persons with Down syndrome. Of the 36 individuals (ages 20-32 years) enrolled in this study, 20 had abnormal echocardiographic findings. Thirteen patients had mitral valve prolapse, 3 had both mitral valve prolapse and aortic insufficiency, 2 had only aortic insufficiency, and 2 had other mitral valve disorders. In 14 of the 16 patients with mitral valve prolapse, a midsystolic click was heard. Theories of the pathogenesis and possible complications of mitral valve prolapse and its relationship to exercise and sport activities are discussed.


Subject(s)
Down Syndrome/genetics , Mitral Valve Prolapse/genetics , Adult , Aortic Valve Insufficiency/diagnostic imaging , Aortic Valve Insufficiency/epidemiology , Aortic Valve Insufficiency/genetics , Cohort Studies , Cross-Sectional Studies , Down Syndrome/diagnostic imaging , Down Syndrome/epidemiology , Echocardiography , Female , Humans , Incidence , Male , Mitral Valve Prolapse/diagnostic imaging , Mitral Valve Prolapse/epidemiology , Rhode Island/epidemiology , Sports/physiology
19.
Biol Neonate ; 66(1): 50-5, 1994.
Article in English | MEDLINE | ID: mdl-7948440

ABSTRACT

Plasma erythropoietin (Ep) was determined in umbilical cord blood in 18 infants with Down's syndrome. The 16 infants with Down's syndrome who were delivered after labor had significantly elevated plasma Ep levels compared to 36 control infants born after labor (p < 0.001). Six of the ten infants with Down's syndrome who had their packed cell volume (PCV) measured in the first 24 h of life were polycythemic based on a PCV of > or = 0.65. The presence of congenital heart disease in 9 of the 18 infants with Down's syndrome was not associated with a higher plasma Ep or PCV levels. Plasma Ep was correlated with neonatal PCV in the combined group of control and Down's syndrome infants (p = 0.003). Increased plasma Ep levels observed in infants with Down's syndrome suggested chronic fetal hypoxemia as a likely explanation for the high incidence of neonatal polycythemia observed in this group.


Subject(s)
Down Syndrome/blood , Erythropoietin/blood , Fetal Blood/metabolism , Down Syndrome/complications , Heart Defects, Congenital/blood , Heart Defects, Congenital/complications , Hematocrit , Humans , Infant, Newborn , Polycythemia/blood , Polycythemia/complications
20.
Childs Nerv Syst ; 9(8): 452-7, 1993 Dec.
Article in English | MEDLINE | ID: mdl-8124671

ABSTRACT

Sleep-related breathing disorders may cause excessive daytime sleepiness, cognitive impairment, and behavior problems in children and adolescents. Adenotonsillar enlargement (AT) is known to be a significant risk factor for these disorders, which have also been reported in several patients with Down syndrome (DS). Children with attention deficit disorder/hyperactivity (ADD) show behavior problems that may be related to disturbed nocturnal sleep in some. To evaluate the relationships among these disorders and symptoms, parents of 29 school-aged children with AT, 70 with DS and 48 of their siblings (DS-SIB), and 21 with ADD completed a 20-item screening questionnaire covering nocturnal sleep symptoms and daytime behavior problems. Nocturnal symptoms of sleep-related breathing disorders--snoring, breathing pauses during sleep--were reported more commonly by parents of AT and DS children. However, parents of two of the ADD children reported significant signs of sleep-related breathing disorders. Daytime behavior problems were more common in ADD and AT than in the DS group. Bedwetting reports did not distinguish groups. Direct comparisons of DS and DS-SIB groups showed that more DS were mouth breathers, snored, stopped breathing at night, and were sleepy in the daytime. These findings underscore the importance of obtaining a history of nocturnal sleep from parents of children with AT and DS, as well as those with disrupted daytime behavior.


Subject(s)
Adenoids/pathology , Attention Deficit Disorder with Hyperactivity/complications , Child Behavior Disorders/etiology , Down Syndrome/complications , Palatine Tonsil/pathology , Sleep Apnea Syndromes/etiology , Adolescent , Adult , Aggression/psychology , Antisocial Personality Disorder/etiology , Antisocial Personality Disorder/psychology , Attention Deficit Disorder with Hyperactivity/psychology , Child , Child Behavior Disorders/psychology , Child, Preschool , Down Syndrome/psychology , Female , Humans , Hypertrophy/complications , Infant , Male , Personality Assessment , Risk Factors , Sleep Apnea Syndromes/psychology
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