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Ennio Del Giudice

Publications and source records attributed to Ennio Del Giudice.

7 recordsLinked to original sources
PubMed2006

Impact of malnutrition on gastrointestinal disorders and gross motor abilities in children with cerebral palsy.

UNLABELLED: Children with cerebral palsy (CP) often demonstrate abnormal feeding behaviours, leading to reduced food consumption and malnutrition. Moreover, most of them present with gastrointestinal disorders, such as gastroesophageal reflux disease (GERD) and/or chronic constipation (CC), and poor motor function rehabilitation. The aim of our study was to assess the possible relationship between malnutrition and gastrointestinal problems and to evaluate the role of nutrition on their gross motor abilities in a population of children with CP and mental retardation. PATIENTS: Twenty-one consecutive children (10 boys; mean age: 5.8+/-4.7 years; range: 1-14 years) with CP and severe mental retardation. METHODS: Nutritional assessment included the measurement of body mass index (BMI=W/H2), fat body mass (FBM) and fat free mass (FFM). Children with symptoms suggesting GERD underwent prolonged 24h intraesophageal pH monitoring and/or upper GI endoscopy with biopsies before and after a 6 months of pharmaceutical (omeprazole) and nutritional (20% increment of daily caloric intake) treatments. The motor function was evaluated by "The Gross Motor Function Measure" (GMFM) before and after the 6 months on nutritional rehabilitation. RESULTS: BMI for age was or=25 degrees percentile, five of nine (55.5%) patients had persistent GERD when they were taken off the medication. CONCLUSIONS: Malnutrition and gastrointestinal disorders are very common in children with cerebral palsy. Improved nutritional status, particularly fat free mass gain, appears to have an impact on motor function in children with CP.

Adolescent↗
PubMed2006

Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome.

UNLABELLED: We report a 3-y-old male infant with Prader-Willi syndrome (PWS) caused by a de novo interstitial deletion of 15q11-q13. Additional features included a right cerebellar hemisphere hypoplasia. The extent of deletion was determined by FISH analysis using an SNRPN PW/AS probe that maps in the PWS/AS critical region (CR) and with specific 15q BACs. We unravelled an interstitial 15q11.2-q13.1 deletion spanning about 3 Mb. CONCLUSION: To date only a few other PWS patients--including autopsy cases--with CNS structural anomalies have been described. Our case report adds knowledge to the issue of brain involvement in Prader-Willi syndrome. Further MRI studies of PWS patients will be helpful to clarify a correlation between PWS and brain abnormalities.

Cerebellum↗
PubMed2006

Taylor-type focal cortical dysplasia: is the epilepsy always resistant to medical treatment?

Patients with Taylor-type focal cortical dysplasia (TTFCD) generally present with medically intractable epilepsy and impaired neurological and/or intellectual functioning. Surgery usually proves to be the only treatment approach leading to control of seizures. We describe a 17-year-old girl with TTFCD who exhibited a very long period of seizure remission. Combined clinical and neuroimaging findings were compatible with a diagnosis of a balloon cell-subtype TTFCD. As for the clinical course, partial motor seizures began at one year of age and ceased at five: our patient has had no seizure recurrence over a 12-year-follow-up. Moreover, throughout the 15-year follow-up, neurological examinations and cognitive abilities always remained within normal limits. Neuropsychological assessment clearly showed no impairments in executive functions: planning abilities, working memory, attention and impulse control, or constructive aspects of motor coordination. The predominant deficits pertained to verbal abilities in the context of borderline intellectual performances. To our knowledge, this case report documents the longest duration of seizure remission in a patient with TTFCD, thus emphasizing the possible benign course of such dysplastic lesions which usually have a poor prognosis, leading to early surgical treatment.

Adolescent↗
PubMed2005

Cerebellar vermis aplasia: patient report and exclusion of the candidate genes EN2 and ZIC1.

Cerebellar vermis aplasia (ACV, OMIM 117360) is a rare malformation of the cerebellum, with only few familial patients reported so far. Main clinical features of this rare disorder include floppiness and delayed milestones in early infancy, preceding mild cerebellar ataxia, non-progressive clinical course, normal or slightly delayed intelligence, and occasional nystagmus. Neuroimaging reveals selective involvement of the cerebellum, which is prominent in the vermis. Because of the large preponderance of female patients, X-linked dominant transmission was suggested by [Fenichel and Phillips (1989); Arch Neurol 46:582-583], and subsequent reports only concern female patients. Only one family with male-to-male transmission presenting with a generalized atrophy of the cerebellum rather than a more localized vermis aplasia has been reported so far. We report on a family in which father and son are affected by a mild form of ACV, thus confirming an autosomal mode of inheritance of the disease. Our patients showed a progressive improvement of their motor abilities, neurological examination of the father being actually normal except for a mild mental retardation. We also evaluated the potential role of two candidate genes, EN2 and ZIC1, responsible for abnormal cerebellar development in murine knock-out models. However, molecular analysis failed to reveal any causative mutation in the coding sequence of the two genes in our patients. The understanding of the genetic basis of autosomal dominant ACV would allow a better classification of isolate cerebellar malformations and might permit to understand cell differentiation and migration in the developing central nervous system.

Abnormalities, Multiple↗
PubMed2005

Cerebellar agenesis.

Explore the source record for details and available documents.

Adaptation, Physiological↗
PubMed2002

Short duration outpatient video electroencephalographic monitoring: the experience of a southern-Italian general pediatric department.

The authors assessed the event detection rate and clinical usefulness of short duration, outpatient video electroencephalographic monitoring (VEM), in the pediatric age group. The duration of monitoring was set at a two-hour period. One hundred consecutive patients aged 0-18 years were enrolled in the study. Patients belonged to one of the following groups: A) patients evaluated to differentiate between true epileptic seizures and nonepileptic events; B) patients with known epilepsy evaluated for a better definition of their seizure type; C) patients with isolated EEG abnormalities evaluated to identify unrecognised, subtle seizures. An additional group D, included patients with enhancement of spike activity induced by sleep. Eighty- seven patients experienced at least one event per week and 13% had less than one event weekly. The event detection rate was 53% overall, and 61% in the first group of 87 patients. In patients who had events recorded and characterized, epileptic seizures were identified in 37 children (69.8%), and non-epileptic events in 19 children (35.8%). Diagnostic yield was especially high in children with mental retardation who had predominantly non-epileptic events. VEM was judged successful and/or informative in 73 cases (73%), and turned out to be useful even in patients with a low baseline frequency of clinical events.

Adolescent↗