Siegfried M. Pueschel

Psychiatric disorders in persons with down syndrome

This study was designed to provide information on the prevalence and nature of psychiatric disorders in 497 individuals with Down syndrome. There were 261 patients under 20 years of age and 164 patients 20 years and older, with both groups followed as outpatients, and 72 residents from a state school. The overall frequency of psychiatric disorders in our study population was 22.1%. Patients under 20 years of age often displayed disruptive behaviors, anxiety disorders, and repetitive behaviors. Individuals with Down syndrome 20 years and older who were followed as outpatients more often exhibited major depressive disorders and state school residents were found to have an increased prevalence of dementia.

Major Depression in a Small Group of Adults with Down Syndrome.

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.

Infantile sialic acid storage disease associated with renal disease

A child with infantile sialic acid storage disease is reported. Ultrasonography demonstrated fetal ascites. At birth, the infant appeared hydropic and presented with numerous dysmorphic features, including sparse white hair, coarse facies, hypertelorism, epicanthal folds, anteverted nostrils, and a long philtrum. In addition, he had visceromegaly, bilateral inguinal hernias, and a slight gibbus deformity. Lymphocytes were vacuolated and bone marrow contained large numbers of foam cells. There were generalized vacuolations of both reticuloendothelial and parenchymal cells in the examined tissues. Neuropathologic studies revealed wide-spread neuronal storage, myelin loss, axonal spheroids, and gliosis. Neurons, endothelial cells, and Kupffer cells stained with wheat germ agglutinin indicated an accumulation of sialic acid. Free sialic acid was significantly increased in urine and serum, as well as in liver, heart, and brain tissues. The alpha-neuraminidase activity was normal. It is assumed that the basic defect of infantile sialic acid storage disease lies in impaired transport of sialic acid across the lysosomal membrane.

X-linked recessive myotubular myopathy: I. Clinical and pathologic findings in a family

Four neonatal deaths in one family were due to X-linked myotubular myopathy. The characteristic alterations in muscle, described in three cases, are marked fiber hypotrophy, size variability, and the presence of internal nuclei or pale areas. The diagnosis can be verified only by obtaining a careful genetic history. Previous occurrence of male neonatal death or stillbirth, or of hypotonia and respiratory insufficiency, is critical in the identification of suspected cases. There is morphologic justification for retaining the name myotubular myopathy to distinguish this X-linked disorder from other congenital conditions involving muscle weakness that have similar morphologic features.

Down syndrome: otolaryngological effects of rapid maxillary expansion.

OBJECTIVEnPhenotypical Down syndrome includes pharyngeal and maxillary hypoplasia and, frequently, constricted maxillary arch with nasal obstruction.nnnSTUDY DESIGNnThis 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.nnnRESULTSnIn 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.nnnCONCLUSIONSnRapid 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.

The Prevalence of Hepatitis B Surface Antigen and Antibody in Home-Reared Individuals with Down Syndrome.

We examined 180 noninstitutionalized persons with Down syndrome for the presence of both hepatitis B surface antigens and antibodies to hepatitis B surface antigen. Two of the 180 subjects with Down syndrome had a positive test. One patient was hepatitis B surface antigen positive and the other was found to have antibodies to hepatitis B surface antigen. Also, 2 of the 155 individuals in the comparison group tested positive for hepatitis B surface antigen. Thus, we did not observe an increased prevalence of hepatitis B surface antigen or antibody in the study group and there was no significant difference between the Down syndrome and comparison groups. This is in contrast to many studies that originated in residential facilities where an increased number of persons with Down syndrome were found to have hepatitis B surface antigenemia. The related public health concerns are discussed.

BEHAVIORAL/EMOTIONAL PROBLEMS IN MENTALLY RETARDED CHILDREN AND YOUTH

A survey was made of 1,114 mentally retarded children seen at a community mental retardation evaluation clinic between January, 1970 and April, 1977 to determine the prevalence of behavioral and emotional problems. 25% of the surveyed population showed such problems. Prevalence was related to level of intelligence and age, but not to sex or economic status.

A dominantly inherited congenital anomaly syndrome with blepharophimosis

biopsy results from one patient showed no accumulation of zinc in the mucosa? suggesting that cellular egress is normal. The zinc deficiency state is readily corrected by oral administrat ion of zinc salts or by feeding human milk. The therapeutic effect of the latter is thought to be due to the presence o f a ZBL which enhances cellular uptake. A similar ZBL is present in duodenal Secretions from patients with AE and from healthy adults. However, the diminished uptake o f zinc by the Iigand of patients with AE would result in decreased presentation of zinc to the muc0sal surface, and could account for the impairment of zinc absorption.

Pseudodementia in the Mentally Retarded A Case Report and Review

Intellectual and behavioral deterioration in an individual who is mentally retarded presents a diagnostic challenge to the clinician, since the deterioration may be the result of the primary disorder or a new process. The mentally retarded individuals limitations in communication make the diagnostic assessment more difficult. The authors report the case of pseudodementia in a mentally retarded teenager presumed to have been caused by impacted otic cerumen and corrected by removal of the cerumen. The discussion includes a review of medical, neurologic, psychiatric, and environmental causes of intellectual and behavioral deterioration.