José Salomão Schwartzman

Buspirone in Rett syndrome respiratory dysfunction

This study details a case of Rett Syndrome where the patients respiratory dysfunction was improved after buspirone was administered. Polygraphic studies in the waking state, before and after treatment with 5 mg of buspirone twice a day, were obtained. Breathing movements, oxygen saturation and end-tidal carbon were monitored. Average oxygen saturation increased from 86.9 to 91%, and the period of saturation below 90% was reduced by 42.2%. The oxygen saturation improvement observed in this case suggests that buspirone might be useful in treating respiratory dysfunction associated with Rett Syndrome. Controlled clinical trials are needed to provide more evidence.

Rett Syndrome in a Boy with a 47,XXY Karyotype

The collaboration of Drs. Mariz Vainzof, Maria Rita Passos-Bueno, and Lygia V. Pereira and of Constancia Urbani is gratefully acknowledged. This research was supported with grants from the Fundacao de Amparo a Pesquisa do Estado de Sao Paulo, Programa de Apoio a Nucleos de Excelencia, and Conselho Nacional de Desenvolvimento Cientifico e Tecnologico.

Descriptive study of the clinical and nutritional profile and follow-up of premature babies in a Kangaroo Mother Care Program.

OBJECTIVE To describe the profile of premature newborns participating in the Kangaroo Mother Care Program and the data from follow-up, and to verify possible correlations between these descriptive data. METHODS A descriptive study of 70 children, 5-34 months old, born between April 1999 and 2002, with gestational age of 32.5 weeks, birth weight 1,560 g, participating in the Kangaroo Mother Care Program (modified for Brazil) for at least 3 days. They were discharged from Kangaroo Mother Care weighing around 3,000 g and followed-up to 1 year. RESULTS Birth weight, gestational age and Apgar scores were determinants of better clinical, nutritional and motor outcomes as well as for enrollment on the Kangaroo Mother Care Program. During the second phase of the program 8.6% of the children were readmitted due to apnea. Exclusive breastfeeding started at a mean postconceptual age of 35.3 weeks and mean age postpartum of 18.6 days. By hospital discharge, children were at a mean age of 29 days, mean weight of 1,734 g and 85.7% were on exclusive breastfeeding. Predominant breastfeeding up to 6 months of age was observed in 60.3%. We initially identified motor disorders in 42.8% decreasing to 14.3% in the final review of records, including cerebral palsy (6.9%) and retarded motor development (6.9%). CONCLUSIONS Enrollment on the Kangaroo Mother Care Program, in common with data on breastfeeding and clinical outcomes were determined by gestational age and birth weight and were influenced by clinical conditions of each preterm infant. Kangaroo Mother Care proved itself a good breastfeeding instrument, but its role as an intervention for motor development must be better investigated.

Mothers of children with cerebral palsy with or without epilepsy: a quality of life perspective

Purpose. Disability in a child affects not only the childs life but also the familys life. The aim of our study is to verify the quality of life (QOL) of mothers of disabled children with cerebral palsy (CP) with epilepsy compared with non-epilepsy children evaluated in a Brazilian center. Methods. Thirty mothers of disabled children participated in the study. The control group comprised of 18 healthy mothers of children without disabilities. All mothers agreed to participate in the study. They completed the evaluation forms of the SF-36 health survey, a well-documented, self-administered QOL scoring system. Results. The results of our study support the premise that mothers of children with CP, as a group, have poorer QOL than mothers of not disabled children. Conclusions. We also observed that mothers of children with CP and epilepsy have poorer QOL than mothers of children with CP without epilepsy.

Concepts of color, shape, size and position in ten children with Rett syndrome

Individuals with Rett syndrome (RS) present severe motor, language and cognitive deficits, as well as spontaneous hand movement loss. On the other hand, there are strong evidence that these individuals use the eyes with intentional purpose. Ten girls aged 4y8m to 12y10m with RS were assessed with a computer system for visual tracking regarding their ability of indicating with eyes the recognition of concepts of color (red, yellow and blue), shape (circle, square and triangle), size (big and small) and spatial position (over and under) to which they were first exposed to. Results from comparing the time of eyes fixation on required and not required concepts did not differ significantly. Children did not show with eyes the recognition of the required concepts when assessed with eye tracking system.

Fenótipo Rett em paciente com cariótipo XXY: relato de caso

We report the case of a XXY boy who presents progressive neurological disorder which has started around eleven months of age, with developmental stagnation followed by regression. The child presents as well stereotypic hand movements, loss of purposeful hands use and microcephalia. Presence of any defined systemic or neurological condition which could be pointed out as the possible etiological factor for the case was not found out by investigations. It deals with a boy with phenotypic alterations very similar to those considered typical for Rett syndrome which associated with chromosomal alteration (XYY karotype) constitute evident scientific interest.We report the case of a XXY boy who presents progressive neurological disorder which has started around eleven months of age, with developmental stagnation followed by regression. The child presents as well stereotypic hand movements, loss of purposeful hands use and microcephalia. Presence of any defined systemic or neurological condition which could be pointed out as the possible etiological factor for the case was not found out by investigations. It deals with a boy with phenotypic alterations very similar to those considered typical for Rett syndrome which associated with chromosomal alteration (XXY kariotype) constitute evident scientific interest.Relatamos o caso de um menino com cariotipo XXY que apresenta desordem neurologica progressiva com inicio por volta dos 11 meses de idade, com estagnacao do desenvolvimento seguida de regressao. A crianca apresenta, ainda, movimentos estereotipados de maos, apraxia manual e microcefalia. Investigacoes nao constataram presenca de qualquer condicao neurologica ou sistemica definida que pudesse ser apontada como possivel etiologia para o quadro descrito. Trata-se de menino com alteracoes fenotipicas muito similares aquelas consideradas tipicas para a sindrome de Rett que, associadas com a alteracao cromossomica constatada (cariotipo XXY), constituem quadro de evidente interesse cientifico.

Eating practices, nutritional status and constipation in patients with Rett syndrome

BACKGROUND Disturbance in chewing, swallowing and digestive motility may predispose to feeding and nutritional abnormalities in patients with Rett syndrome. OBJECTIVE To evaluate the dietary habits, nutritional status and the prevalence of constipation in patients with classical Rett syndrome. METHODS Twenty seven female patients between the ages of 2.6 and 21.8 years were studied. The following parameters were evaluated: food register, weight, height and intestinal movement characteristics. Weight and height were compared with the National Center for Health Statistics standards. RESULTS The inability to ingest solid foods was observed in 80.8% of the patients. A height-to-age deficit was observed in 13 (48.1%) of the girls, being more intense in patients at stage IV. Weight-for-height deficit was found in 10 (37.0%) patients, 15 (55.6%) showed normal weight and 2 (7.4%) were overweight for their height. The median ingestion of energy, according to weight-for-height, was equal to 106.6%. Insufficient iron ingestion was observed in 63.0% and insufficient calcium in 55.6% of the patients. Constipation was verified in 74.1% of the patients and did not show a relationship with the quantity of fiber in the diet. CONCLUSION Various nutritional problems, as well as, intestinal constipation were observed in these patients with Rett syndrome, and they must be considered in the multidisciplinary therapeutic planning of these individuals.

Saccadic movements using eye-tracking technology in individuals with autism spectrum disorders: pilot study

OBJECTIVE To verify differences in the visual scanning strategies between pervasive developmental disorders (PDD) and controls when they are observing social and non-social pictures. METHOD PDD group (PDDG) comprised by 10 non-retarded subjects (age from 4 to 41) and age-matched control group (CG). Nine social pictures with human beings (including two pictures of cat mask), and 3 nonsocial pictures of objects were presented for 5 seconds. Saccadic movements and fixation were recorded with equipment EyeGaze (LC Technologies Inc.). RESULTS PDDG (mean=292.73, SE=67.62) presented longer duration of saccadic movements for social pictures compared to CG (mean=136.06, SE=14.01) (p=0.04). The CG showed a higher number of fixations in the picture 7 (a women using a cat mask, with the eyes erased) (CG: mean=3.40; PDDG: mean=1.80; p=0.007). CONCLUSION The results suggest differences in strategies that PDD explore human picture. Moreover, these strategies seem not to be affected by the lack of expected part of the face (the eyes).

Síndrome de Rett

This article is focus on the currently knowledge about Rett syndrome, based on the more recent information in the international literature on genetic and epidemiological aspects of this condition, as well as on its clinical and laboratory diagnosis, neuropathology, electrophysiology. and clinical outcome (epilepsy, respiratory disorders, autonomic disturbances and nutritional aspects). Although it has been known as a female condition, nowadays it is described the possibility of affected males with a different phenotype.

The eye-tracking of social stimuli in patients with Rett syndrome and autism spectrum disorders: a pilot study

OBJECTIVE To compare visual fixation at social stimuli in Rett syndrome (RT) and autism spectrum disorders (ASD) patients. METHOD Visual fixation at social stimuli was analyzed in 14 RS female patients (age range 4-30 years), 11 ASD male patients (age range 4-20 years), and 17 children with typical development (TD). Patients were exposed to three different pictures (two of human faces and one with social and non-social stimuli) presented for 8 seconds each on the screen of a computer attached to an eye-tracker equipment. RESULTS Percentage of visual fixation at social stimuli was significantly higher in the RS group compared to ASD and even to TD groups. CONCLUSION Visual fixation at social stimuli seems to be one more endophenotype making RS to be very different from ASD.