Megakaryoblastic Leukemia and Down's Syndrome: A Review

Megakaryoblastic leukemia and transient leukemia in Down's syndrome have been reviewed using case reports from the literature and our own experience at the Hospital for Sick Children. The following conclusions have been reached: (1) approximately 20% of leukemia (excluding transient leukemia) in Down's syndrome is acute megakaryoblastic leukemia; (2) approximately 20% of all leukemia in Down's syndrome is transient leukemia; (3) transient leukemia in Down's syndrome is acute megakaryoblastic leukemia; (4) recurrence of acute megakaryoblastic leukemia occurs in 20% of the cases of transient leukemia; and (5) the incidence of acute megakaryoblastic leukemia in Down's syndrome is estimated to be 400 times that in normal children. These observations suggest that a specific form of leukemia, namely acute megakaryoblastic leukemia, has a remarkable association with Down's syndrome.     

Cystic Lung Disease in Down's Syndrome: A Report of two Cases

Previously unreported lung disease found at autopsy in 2 young infants with Down's syndrome and congenital heart disease (complete atrioventricular canal malformation with left-to-right shunt) is described. The perinatal and neonatal period was unremarkable, and there was no history of mechanical ventilation or administration of high concentrations of oxygen for extended periods. In 1 of the cases respiratory symptoms and hyperinflation with focal cystic changes in the lung fields on chest X-ray were noted at 5-7 months of age. Pathologically there was cystic dilatation of alveoli with focal cuboidal metaplasia of alveolar epithelium and mild to moderate focal alveolar septal fibrosis. Wilson-Mikity syndrome, congenital pulmonary lymphangiectasia, bronchopulmonary dysplasia, and idiopathic interstitial fibrosis of lungs were ruled out on clinical and/or pathologic grounds. Factors such as compression of bronchi by enlarged pulmonary arteries or cardiac chambers, peribronchiolar accumulation of fluid, pulmonary hypoplasia occurring in Down's syndrome, and episodes of pulmonary arterial hypoperfusion associated with severe congenital heart disease may be related to the pathogenesis of the lesion.     

Infantile Autism and the Fragile X Syndrome in Japanese Children

A total of 97 children with infantile autism, 85 boys and 12 girls, were screened for the fragile X chromosome. They ranged in age from 2 to 14 years with an average of 5 5/12 years. There were two fra(X) positive boys and no such girls. ( Acta Paediatr Jpn 1989; 31: 163 - 165)     

Results of Surgical Treatment of Congenital Heart Defects in Children with Down's Syndrome

We analyzed early and late results of surgical treatment of 100 consecutive children with Down's syndrome (DS) and congenital heart defect (CHD) who were operated on between 1990 and 1997. Fifty had common atrioventricular canal (CAVC), 24 ventricular septal defect, 8 the ostium primum atrial septal defect, 8 tetralogy of Fallot (TOF), 3 patent ductus arteriosus, 3 the ostium secundum atrial septal defect, and 4 CAVC coexisting with TOF. In 93 patients total correction was performed. The total death rate was 6%. Death in the CAVC group was 8%, but it decreased to 2.7% during the past 3 years. The children who were followed up (from 7 months to 6 years; mean, 39 months) are in NYHA class I or II. There were no reoperations. The postoperative course was complicated by pulmonary infections in 38% of patients, which converted to generalized infection in 10% and was the cause of death in 8% of patients. These results indicate that CHD in DS children can be repaired with a low death rate and low incidence of severe mitral atrioventricular valve regurgitation in the CAVC group. A high incidence of severe infections can influence the final results. Repair of CHD in infancy helps to eliminate problems connected with congestive heart failure and pulmonary hypertension.     

A case of Down's syndrome associated with progressive extradural neuroblastoma

We describe a case of Down's syndrome associated with progressive extradural neuroblastoma. Postmortem aspiration of the bone marrow revealed diffuse infiltration by tumor cells, in which trisomy 21 was found by fluorescence in hybridization in situ. Accepted: 29 July 1998     

Belief Term Development in Children with Autism, Asperger Syndrome, Specific Language Impairment, and Normal Development: Links to Theory of Mind Development

This study examined the relationship between the development of theory of mind and the development of the belief terms think, know, and guess. Children with autism and Asperger syndrome, matched to children with specific language impairment and normal development, completed false belief, belief term comprehension, and belief term expression tasks. The autistic group's performance on the false belief, belief term comprehension, and belief term expression tasks was significantly poorer than that of the Asperger, language impaired, and normal groups. Across groups an association was found between false belief and belief term performance. Results support a growing body of literature demonstrating links between the development of theory of mind and communicative competence.     

Behavioural Problems in Children with Down''s Syndrome and their Siblings

Reports of problem behaviour in children with Down's syndrome and their siblings were gathered from mothers, fathers and teachers. Twenty-one sibling pairs were included in the study. The Revised Behavior Problem Checklist (Quay & Peterson, 1983) was used to gather information on total problem behaviour and on five specific problem areas. Children with Down's syndrome were reported to display more problem behaviours overall and to show significantly more attentional problems than their siblings by all rater groups. Sisters of children with Down's syndrome were reported to be more conduct disordered than were brothers by mothers, fathers and teachers. Measures of depression and marital satisfaction found both parent groups to be in the non-distressed range on these instruments. Depression contributed significantly to both parents' reports of problems in the siblings while marital satisfaction was important for mothers' reports of problems in children with Down's syndrome.     

Fatal Aplastic Anemia in a Child with Down's Syndrome

ABSTRACT. An infant with Down's syndrome developed severe persistent neutropenia at the age of 9 months and fluctuating anemia and thrombocytopenia at one year of age which terminated as full-blown aplastic anemia at 26 months of age. Immunological evaluation revealed increased peripheral and bone marrow lymphocytes and impaired blood OKT4: OKT8 ratio. Bone marrow granulocyte-macrophage colony forming cells (GM-CFC) were markedly increased, while peripheral blood mononuclear cells (PBMN) produced normal numbers of colonies. The patient's PBMN and serum were both somewhat inhibitory to normal bone marrow derived GM-CFC, suggesting the existence of a suppressor activity both in his serum and PBMN. This unusual course of aplastic anemia and the abnormalities in T-cells and hematopoiesis in Down's syndrome are discussed.     

Transient Abnormal Myelopoiesis and Diffuse Hepatic Necrosis in Down's Syndrome with Prominent Bleeding Diathesis

ABSTRACT. The first case known to us with Down's syndrome with transient abnormal myelopoiesis and diffuse hepatic necrosis is reported. The infant had prominent bleeding diathesis and hepatosplenomegaly. She died on the 7th day because of intractable bleeding. The autopsy disclosed extramedullary hematopoiesis and extensive hepatic cell necrosis. Characteristic in our case was the outstanding bleeding diathesis due to coagulopathy.     

Asperger''s Syndrome: Evidence of an Empirical Distinction from High-Functioning Autism

This study compared the neuropsychological profiles of individuals with high-functioning autism (HFA) and Asperger's syndrome (AS). In comparison with matched controls, both groups were impaired on executive function tests. Only the HFA group demonstrated deficits in theory of mind and verbal memory, performing more poorly than both controls and AS subjects. These results suggest that: (1) HFA and AS are empirically distinguishable on measures independent of diagnostic criteria, and (2) impairment on theory of mind measures is not universally found among individuals with autistic spectrum conditions. The primacy of executive function and theory of mind deficits to autism is discussed.     

Factors Related to Stress and Satisfaction with Life in Families of Children with Down''s Syndrome

In a study of families of children with Down's syndrome, measures of parent, family and child characteristics were obtained from mothers and fathers. Multivariable analyses investigated their relationships to outcome measures of psychosomatic symptoms of stress and parents' perceived satisfaction with life. Personality factors were related to outcome for both parents. For mothers, the children's levels of behaviour problems, excitability and self-sufficiency were strongly related to outcome. Coping strategies, family relationships and socio-economic factors also showed significant effects. For fathers, child characteristics were not related to outcome. The marital relationship was an important factor and there was evidence that factors external to the family acted as stressors.     

Distinguishing Serious and Playful Fighting by Children with Learning Disabilities and Nondisabled Children

The ability to distinguish serious from playful fighting by two groups of children with learning disabilities (LD) (mean age = 9.3 and 11.8 years) and non-LD children (mean age = 10.1 years) was examined. Children with LD were generally able to make this distinction, with older children being more accurate. However, the performance of children with LD was not as high as that of non-LD children: they used a smaller range of criteria; some criteria were used significantly less; and they were much more likely not to give any reason for the judgements made. On the other hand, the order in frequency of those criteria cited was similar for both non-LD children and children with LD. Physical actions of the participants, and inference about actions and/or intent were the most frequently cited criteria. These findings indicate that although children with LD use fewer social cues, and are less accurate in making judgements about the nature of behavioural episodes, the acquisition of the meaning of particular cues may follow the same sequence as for non-LD children. Possible delays in the social cognitive development of children with LD, and their implications for the social adjustment of these children, are discussed.     

Enzymes of Leukocyte Oxidative Metabolism in Down's Syndrome

ABSTRACT. Enzymes of importance for oxygen dependent leukocyte killing of microorganisms were studied in 14 patients with Down's Syndrome (DS) and 10 controls. As has been reported previously for other cell types, the level of CuZn superoxide dismutase (SOD) was 50 % higher in polymorphonuclear leukocytes (PMN) from DS patients than from the controls. The amount of SOD was extremely low in the PMNs from controls, i.e. only about 6 % of the levels in other human tissues. The levels of catalase and of the Mn dependent SOD were normal. The myeloperoxidase (MPO) activity of DS PMNs was only 59 % of that of the control cells. Previously reported increased levels of CuZnSOD and GSH peroxidase in erythrocytes and CuZnSOD in lymphocytes were confirmed. The increased levels of SOD in DS phagocytes provide a possible partial explanation for previous reports of defective killing of S. aureus in DS. In addition, the MPO deficiency impairs the H₂0₂-halide-MPO system, which is of particular importance for fungal killing, e.g. of C. albicans , which has also been reported to be deficient in DS. The findings may thus explain some of the mechanisms underlying the increased susceptibility to certain infections in DS.     

Face Perception in Children with Autism and Asperger's Syndrome

Abstract— Children with diagnoses of either autism or Asperger's syndrome were matched on measures of verbal mental age with nonautistic control children. They were tested on their abilities to process both facial and nonfacial stimuli. There were no significant differences between the low ability autistic and control groups, but the high ability autistic and Asperger's children performed significantly worse than controls across all tests. Group averages masked substantial individual variation. The results are seen as indicating a general perceptual deficit that is not specific to faces or emotions. This appears to be a common correlate of autism and Asperger's syndrome, rather than a core symptom.     

A survey of paediatric management practices in Down's syndrome

Paediatricians throughout Australia and New Zealand completed a questionnaire in which they indicated the type of advice the normally give to parents of children with Down's syndrome. Results indicated strong support for early intervention, discussion with other parents of children with Down's syndrome, and conventional therapy services. Cosmetic surgery appears to be receiving increasing support. Megavitamin therapy, cell therapy and the Doman programme are unsupported. A tendency was noted for paediatricians to underestimate the developmental potential of children with Down's syndrome.     

Congenital duodenal obstruction with Down's syndrome and Hirschsprung's disease

Two rare cases of congenital duodenal obstruction (CDO) with Down's syndrome and Hirschsprung's disease (HD) are reported. The incidence of associated anomalies in CDO, with reference to the literature, and the diagnosis of HD with CDO are discussed. If intestinal dilation or difficulty in defecation persist after CDO has been diagnosed and relieved, then a barium enema should be repeated together with anorectal manometric and rectal mucosal histologic studies in consideration of HD.     

A case of Down's syndrome resulting from mirror duplication of chromosome 21

Cytogenetic analysis of a 1-month-old boy with a phenotype similar to that typical for Down's syndrome revealed 46 chromosomes with a mirror duplication of chromosome 21. SOD-1 concentration was increased.