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Biomedical subjects

M Zappella

Publications and source records attributed to M Zappella.

At least 19 recordsLinked to original sources
PubMed1992

The Rett girls with preserved speech.

In addition to a total population of 102 classic Rett syndrome girls who visited our department in the last 8 years, 3 were observed showing some of the features typical of this syndrome, including hand-washing activities, but also some atypical features, the most notable of which was their ability to speak in fully formed phrases. One of these girls has a sister with the typical features of classic Rett syndrome. Atypical variants of the Rett syndrome are discussed and the possibility of a "speaking" variant is considered.

Adult↗
PubMed1990

Breathing disorders in males with acquired encephalopathy.

Six boys affected by acquired encephalopathy with an abnormal breathing pattern in wakefulness were studied. Polygraphic recordings showed two different patterns in our population. In two brothers a periodic breathing pattern was recorded in the awake and sleep states. In the others, central apneas with or without tachypnea and O2 desaturation were observed only during wakefulness. The analogy of these patterns with those of genetic syndromes such as familial encephalopathy and the Rett syndrome led us to postulate the aspecificity of this finding and the importance of further studies to elucidate the role of impaired behavioural and automatic breathing system control.

Apnea↗
PubMed1990

A double blind trial of bromocriptine in the Rett syndrome.

Ten girls affected by the Rett syndrome (RS) were treated with bromocriptine in a double blind trial. Two girls showed considerable improvements in gross and fine motor development, in cognitive and social activities, and in their autonomy after four months of treatment. Minimal improvements were seen in one girl, but the others showed no positive change.

Adolescent↗
PubMed1990

Bromocriptine in the Rett syndrome.

Twelve typical cases of the Rett syndrome and one forme fruste were treated with bromocriptine for six months and then had a washout for two months followed by resumption of the bromocriptine treatment. During the first bromocriptine treatment there were improvements in communication and relaxation in some of the girls: a more regular sleep pattern was observed in 4 and a more varied facial expression in 8, and 4 girls began to utter a few words. The bouts of hyperpnea disappeared in 5 and grinding of the teeth in 3. There was also a reduction in stereotypic hand activities in 5 girls and signs of improved motor abilities in 3. The washout caused a general decrease in the positive effects of the previously administered bromocriptine and resumption of the treatment with this drug led to less marked improvement. Metoclopramide was tested in all the girls before the treatment, and it was noted that, while endorphins were hyporesponsive, prolactin was hyperresponsive. This test was repeated two months after the bromocriptine treatment had been performed and, while beta-lipotropin remained unchanged, beta-endorphin showed increased responsiveness.

Adolescent↗
PubMed1989

Reduced cerebrospinal fluid B-endorphin levels in Rett syndrome.

Cerebrospinal fluid (CSF) levels of B-endorphin (B-EP), B-lipotropin (B-LPH) and ACTH were measured in nine girls with Rett syndrome with features of autistic behavior (3.7-12.1 years of age) and in ten children with chronic leukemia (control group). The peptides were measured by radioimmunoassay, either directly in the sample (ACTH) or after Sephadex G-75 column chromatography, in order to eliminate interfering substances (B-LPH and B-EP). The CSF B-EP patient levels (20.8 +/- 13.1 fmol/ml, means +/- SD) were significantly lower than in age-matched controls (69.1 +/- 32.6, P less than 0.01), whereas the B-LPH and ACTH levels were in the control range. No correlations were found between the clinical findings and CSF neuropeptide concentrations. These data demonstrate a decrease in central opiate activity in girls with Rett syndrome.

Adrenocorticotropic Hormone↗
PubMed1987

High prevalence of Rett syndrome in a small area.

Five cases of Rett syndrome were revealed in a population of 2,269 girls 4-14 years of age and born in 1973-83. This gives a prevalence of 22.03 per 10,000 girls in this small rural area situated around the city of Crema in northern Italy. Family history of these families did not reveal any inbreeding among these families. This unusual concentration of patients with this syndrome is apparently the first example of a strong geographical concentration of Rett syndrome.

Adolescent↗
PubMed1986

Motivational conflicts in Rett syndrome.

Some of the peculiar symptoms of Rett syndrome including stereotypic wringing and washing hand movements, staring, social withdrawal, bouts of hyperpnea, are interpreted as the expression of motivational conflicts occurring in severely brain damaged patients unable to perform useful hand movements. These behaviours can be considerably reduced, if external 'requests' are substantially diminished and sources of keen interest (stories, music, face to face interactions) are activated. These preliminary observations were derived from 34 patients seen by the author.

Adolescent↗
PubMed1986

Plasma endorphins in Rett syndrome: preliminary data.

Plasma levels of beta-endorphin (beta-EP) and prolactin (PRL) were measured in 5 girls with Rett syndrome and in a control group before and after giving 10 mg metoclopramide i.v. beta-lipotropin (beta-LPH) was only measured in basal conditions. Basal values of beta-EP and beta-LPH were lower than in control individuals. The responses of plasma beta-EP to metoclopramide in Rett syndrome patients were less intense than in control individuals, while the PRL increase in girls with Rett syndrome was significantly higher than in control subjects. These preliminary data suggest a derangement of the dopaminergic system.

Adolescent↗
PubMed1985

Rett syndrome: a significant proportion of girls affected by autistic behavior.

The main clinical features of 20 girls affected by the Rett syndrome are described and for 3 of them more detailed case reports are given. Fifteen of these girls were observed for the first time between October 1983 and February 1985. In the same period 25 other girls with the complete features of infantile autism were also seen for the first time. The marked loneliness with gaze and hearing avoidance and the speech abnormality of girls with the Rett syndrome are also discussed.

Adolescent↗