Search results for "Neuropsichiatria Infantile"
showing 10 items of 201 documents
Gemellarità e prematurità
2013
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.
2022
ObjectiveSpinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy.MethodsAn online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on the number of patients with SMA subdivided according to age, type,SMN2copy number, and treatment were collected.ResultsOne thousand two hundred fifty-five patients with SMA are currently followed in the Italian centers with an estimated prevalence of 2.12/100,000. Of the 1,255, 284 were type I, 470 type II, 467 type III, and 15 type IV with estimated prevalence of 0…
The integration of immigrant children in nursery school in cross-cultural perspective.
2010
LA SINDROME DI RETT. RISVOLTI CLINICI E SOCIALI.
2010
ASPETTI DELLA QUALITA'DELLA VITA
2010
ESSERE PERSONE CON SINDROME DI DOWN. ESSERE ADOLESCENTI. DIVENTARE ADULTI
2008
Sturge-Weber syndrome: a report of 14 cases
2013
Sturge-Weber-Krabe syndrome (SWS), also known as encephalotrigeminalangiomatosis and named the forthfacomatosis, recall the names of the authors who first describedit in its basic clinical, radiological andanatomopathological aspects. We report here 14 cases of Sturge-Weber disease. In 6 of these, despite what had been previously described in literature, an extension of the angioma has been noted in other parts of the body. The study of these subjects stresses not only the need for a pharmacological/neuropsychomotor intervention, but alsothe need of a psychotherapeutic approach, for the emotional and affective implications thatcould derive from this syndrome. The reported cases are similar …
THERAPEUTIC EFFICACY OF MAGNESIUM VALPROATE IN SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
2012
Succinic semialdehyde dehydrogenase deficiency (SSADHD or gammahydroxybutyric aciduria), a disorder of γ-aminobutyric acid (GABA) metabolism, manifests as a slowly progressive or static encephalopathy. The latter encompasses prominent cognitive dysfunction, neuropsychiatric morbidity and epilepsy.We report safe and effective treatment with MgVPA in an adolescent female with SSADHD and seizures refractory to a broad spectrum of antiepileptics. MgVPA therapy (20 mg/Kg/day) was introduced at 7 years based upon behavioural difficulties and EEG alterations without adverse effects. Therapy was halted at age 13 years, and reintroduced at 14 years, due to new onset complex partial seizures. EEG dem…
Problematiche etiche relative al trattamento sanitario obbligatorio.
2010
Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.
2020
Mowat-Wilson syndrome is a genetic disorder associated with a variable phenotype including peculiar facial features associated with intellectual disability, epilepsy, language impairment, and multiple congenital anomalies caused by heterozygous mutation of the ZEB2 gene. The ZEB2 protein is a complex transcription factor that encompasses multiple functional domains that interact with the regulatory regions of target genes including those involved in brain development. Recently, it has been documented that ZEB2 regulates the differentiation of interneuron progenitors migrating from the medial ganglionic eminence to cortical layers by repression of the Nkx2-1 homeobox transcription factor. It…