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1.
Child Adolesc Psychiatry Ment Health ; 17(1): 24, 2023 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-36793119

RESUMEN

BACKGROUND: In 2020 the world faced the spread of the coronavirus infection disease (Covid-19). This was a general public health emergency but many people with disabilities might have been particularly affected. OBJECTIVE: This paper aims to investigate the impact of the Covid-19 pandemic on children with Cerebral Palsy (CP) and their families. METHODS: 110 parents of children with CP (aged 2 to 19) who completed a questionnaire were included. These children were under the care of one of the Italian Children Rehabilitation Centers. Socio-demographic and clinical information about patients and their families were collected. In addition, difficulties on adopting protective measures and in respecting lockdown rules by children were explored. We adopted the ICF (International Classification of Functioning, Disability and Health) framework to create multiple choice questions. Descriptive statistics were reported and logistic regression analyses were run in order to identify the predictors of perceived impairment in motor, speech, manual and behavioral abilities. RESULTS: Daily activities of children, as well as rehabilitation and fitness sessions, underwent a change during the pandemic. Spending more time with family due to lockdown measures, has had, in some cases a positive effect however there was a perceived decrease in rehabilitation support and school activities. The age range (between 7 and 12 years) and difficulty in respecting rules emerged as significant predictors of the perceived impairment due to Covid-19 pandemic. CONCLUSIONS: The pandemic has had different impacts on children and their families on the basis of children's characteristics. Rehabilitation activities during a hypothetic lockdown should consider these characteristics.

2.
Ann Neurol ; 92(1): 75-80, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35438201

RESUMEN

Nodding syndrome (NS) is a poorly understood form of childhood-onset epilepsy that is characterized by the pathognomonic ictal phenomenon of repetitive vertical head drops. To evaluate the underlying ictal neurophysiology, ictal EEG features were evaluated in nine participants with confirmed NS from South Sudan, Tanzania, and Uganda and ictal presence of high frequency gamma oscillations on scalp EEG were assessed. Ictal EEG during the head nodding episode predominantly showed generalized slow waves or sharp-and-slow wave complexes followed by electrodecrement. Augmentation of gamma activity (30-70 Hz) was seen during the head nodding episode in all the participants. We confirm that head nodding episodes in persons with NS from the three geographically distinct regions in sub-Saharan Africa share the common features of slow waves with electrodecrement and superimposed gamma activity. ANN NEUROL 2022;92:75-80.


Asunto(s)
Síndrome del Cabeceo , Electroencefalografía , Humanos , Síndrome del Cabeceo/diagnóstico , Sudán del Sur , Tanzanía/epidemiología , Uganda
3.
Seizure ; 31: 64-71, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26362379

RESUMEN

PURPOSE: To describe the neurophysiological and clinical features of Nodding Syndrome (NS) in South Sudan. METHODS: The study was performed at the Epilepsy Service of "Usratuna" sited in Juba, South Sudan. The clinical history of each subject was collected along with an EEG tracing. RESULTS: Twenty-one children (10 females) were diagnosed with NS. Fifteen (72%) children were classified as Probable NS and six (28%) as Confirmed NS. They ranged in age between 6 and 14 years, and age at seizure onset ranged from 5 to 12 years. All the subjects presented with intellectual disability which was mild in severity in 12 (57%) cases, moderate in seven (33%) cases and severe in two (10%) cases. Interictal EEG was abnormal in 20 subjects. In 18 (85%) subjects, the EEG showed 2-3.5 Hz spike-and-wave discharges often intermingled with sharp waves. Intermittent light stimulation was normal. In 12 (57%) children, interictal abnormalities were activated by hyperventilation. Ictal EEG was obtained in three patients. In all ictal EEGs head nodding episodes came in clusters during hyperventilation. None of the patients achieved good seizure control even if all of them received antiepileptic treatment (carbamazepine alone [43%] or in association with phenobarbitone or phenytoin). CONCLUSION: This study confirms that NS is an encephalopathy and intellectual disabilities are partially independent of seizure frequency and EEG pathological activity. Based on interictal and ictal EEG patterns and on the experience of other researchers, valproic acid would seem to be the first-choice antiepileptic drug. NS in South Sudan presents with clinical and neurophysiological features which are similar to those described in northern Uganda and more severe than in Tanzania.


Asunto(s)
Encéfalo/fisiopatología , Síndrome del Cabeceo/fisiopatología , Adolescente , Anticonvulsivantes/uso terapéutico , Niño , Electroencefalografía , Femenino , Estudios de Seguimiento , Humanos , Masculino , Síndrome del Cabeceo/tratamiento farmacológico , Síndrome del Cabeceo/epidemiología , Índice de Severidad de la Enfermedad , Sudán del Sur/epidemiología , Tanzanía/epidemiología , Uganda/epidemiología , Ácido Valproico/uso terapéutico
4.
NeuroRehabilitation ; 36(1): 31-6, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25547762

RESUMEN

INTRODUCTION: One of the major intended uses of the International Classification of Functioning, Disability and Health (ICF) is the clinical world of rehabilitation. The intrinsic qualities of ICF, especially in its children and youth version (ICF-CY) seem to perfectly match the needs for the complex process of pediatric neurorehabilitation. OBJECTIVES: We here report on the effect that the implementation of ICF-CY had on team members and families when it was used as a guiding structure in framing the rehabilitation project in a pediatric outpatient clinic dealing with adolescents with cerebral palsy and complex needs. The two-year experience was positive and an ad-hoc questionnaire delivered to team members and families returned very positive remarks. CONCLUSION: The main messages coming from this experience is on the feasibility of the introduction of ICF-CY language and the bio-psycho-social model in the described setting and on the positive response by the stakeholders.


Asunto(s)
Parálisis Cerebral/rehabilitación , Evaluación de la Discapacidad , Clasificación Internacional del Funcionamiento, de la Discapacidad y de la Salud , Adolescente , Estudios de Factibilidad , Femenino , Humanos , Masculino
5.
Disabil Rehabil ; 31 Suppl 1: S67-73, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19968538

RESUMEN

PURPOSE: To show the feasibility and consequences at 1 year of the use of the International Classification of Functioning, Disability and Health, version for Children and Youth (ICF-CY) in the process of social and scholastic inclusion for students with disability in a district of Northeastern Italy (Treviso province). METHODS: We describe the novel procedure for inclusion of students with disability launched by disability and education Services of the Treviso Province. The protocol was organized in four steps and involved health professionals and teachers throughout the whole Province. The implementation was preceded by intensive exposure of the involved professionals to the ICF-CY model and structure and by workshops in which the participants elaborated the actual documents accompanying the process of scholastic inclusion according to the specific Law (104/1992): the notification card, the identification of the student with disabilities, the functional diagnosis, the dynamic functional profile and the individual educational plan. RESULTS: The results show that the adherence to the new protocol was very satisfactory, as well as the perceived validity and relevance of the new documents elaborated with ICF language. The experimentation in progress provided interesting indications on the way to apply the ICF-CY to the scholastic inclusion processes. CONCLUSIONS: The largest alphabetization effort on ICF attempted in a Public Health System (disability service) and in the school system improve the social and scholastic participation of student with disability and can reduce the barriers in the environment.


Asunto(s)
Evaluación de la Discapacidad , Seguro por Discapacidad , Relaciones Interinstitucionales , Integración Escolar , Servicios de Salud Escolar , Vocabulario Controlado , Adolescente , Niño , Estudios de Factibilidad , Humanos , Italia , Evaluación de Resultado en la Atención de Salud
6.
Arch Neurol ; 65(4): 489-94, 2008 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-18413471

RESUMEN

BACKGROUND: Sodium channel alpha 1 subunit gene, SCN1A, is the gene encoding the neuronal voltage-gated sodium channel alpha 1 subunit (Na(v)1.1) and is mutated in different forms of epilepsy. Mutations in this gene were observed in more than 70% of patients with severe myoclonic epilepsy of infancy (SMEI) and were also found in different types of infantile epileptic encephalopathy. OBJECTIVE: To search for disease-causing mutations in SCN1A in patients with cryptogenic epileptic syndromes (ie, syndromes with an unknown cause). DESIGN: Clinical characterization and molecular genetic analysis of a cohort of patients. SETTING: University hospitals, rehabilitation centers, and molecular biology laboratories. PATIENTS: Sixty unrelated patients with cryptogenic epileptic syndromes. MAIN OUTCOME MEASURES: Samples of DNA were analyzed for mutations and for large heterozygous deletions encompassing the SCN1A gene. A search for microdeletions in the SCN1A gene was also performed in the subset of patients with SMEI/SMEI-borderland who had negative results at the point mutation screening. RESULTS: No large deletions at the SCN1A locus were found in any of the patients analyzed. In contrast, 13 different point mutations were identified in 12 patients: 10 with SMEI, 1 with generalized epilepsy with febrile seizures plus, and 1 with cryptogenic focal epilepsy. An additional search for SCN1A intragenic microdeletions in the remaining patients with SMEI/SMEI-borderland and no point mutations was also negative. CONCLUSIONS: These results confirm the role of the SCN1A gene in different types of epilepsy, including cryptogenic epileptic syndromes. However, large deletions encompassing SCN1A were not common disease-causing rearrangements in this group of epilepsies.


Asunto(s)
Análisis Mutacional de ADN , Epilepsia/genética , Proteínas del Tejido Nervioso/genética , Canales de Sodio/genética , Adolescente , Adulto , Edad de Inicio , Niño , Preescolar , Deleción Cromosómica , Epilepsias Mioclónicas/diagnóstico , Epilepsias Mioclónicas/genética , Epilepsias Parciales/diagnóstico , Epilepsias Parciales/genética , Epilepsia/diagnóstico , Epilepsia Generalizada/diagnóstico , Epilepsia Generalizada/genética , Femenino , Estudios de Seguimiento , Tamización de Portadores Genéticos , Genotipo , Humanos , Lactante , Masculino , Canal de Sodio Activado por Voltaje NAV1.1 , Fenotipo , Mutación Puntual , Convulsiones Febriles/diagnóstico , Convulsiones Febriles/genética
7.
Brain ; 129(Pt 7): 1710-9, 2006 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-16670179

RESUMEN

Primary lateral sclerosis (PLS) is a rare progressive paralytic disorder that results from dysfunction of the upper motoneurons. Although PLS is a sporadic disorder of adult middle age, it has also been described in children as juvenile PLS or JPLS. The causative gene for JPLS was found to be ALS2, which is also responsible for a recessive form of amyotrophic lateral sclerosis, for infantile onset ascending hereditary spastic paralysis (IAHSP) and for a form of complicated hereditary spastic paraplegia (cHSP). ALS2 gene encodes a protein termed alsin, containing multiple guanine nucleotide exchange factor domains, specifically binding to small GTPase Rab5 and acting as a GEF for Rab5. In vitrostudies performed with full-length and truncating forms of alsin protein support its role in endosomal dynamics and trafficking of mitochondria. All ALS2 mutations so far reported generate alsin protein truncation. Here, we describe the first homozygous missense mutation in ALS2, p.G540E. The mutation, which falls within the RCC1 domain, was identified in a 34-year-old patient with typical signs of JPLS such as ascending generalized and severe spasticity involving the limbs and the bulbar region, dysphagia, limb atrophy, preserved cognition and sensation. The father and two proband's sisters were found to be heterozygous carriers of the mutation with no signs of the disease. Studies in the neuronal cell line SK-N-BE indicated that the known subcellular localization of wild-type alsin with the early endosome antigen 1, in enlarged endosomal structures, and transferrin receptor is completely lost by the mutant protein, thus indicating that this mutation leads to protein delocalization. Mutant alsin induced neuronal death itself and also significantly enhanced the apoptogenic effect of NMDA and staurosporine. This effect was associated with decreased Bcl-xL : Bax ratio. In contrast, wild-type alsin was neuroprotective and increased Bcl-xL : Bax ratio. Our results provide the first demonstration that a missense mutation in alsin is cytotoxic. In addition, the identification of Bcl-xL/Bax as target of protection by alsin and of cytotoxicity by the mutant form provides a new signalling event regulated by alsin protein that may be important to define its role in neuronal physiology and neurodegeneration. Finally, the phenotype-genotype correlation in our patient, in view of all other ALS2 mutant cases reported previously, suggests a functional interplay of long and short forms of alsin in relation to disease onset and progression.


Asunto(s)
Factores de Intercambio de Guanina Nucleótido/genética , Enfermedad de la Neurona Motora/genética , Mutación Missense , Adulto , Secuencia de Aminoácidos , Apoptosis/genética , Western Blotting , Células Cultivadas , Análisis Mutacional de ADN/métodos , Femenino , Citometría de Flujo , Genotipo , Factores de Intercambio de Guanina Nucleótido/metabolismo , Factores de Intercambio de Guanina Nucleótido/fisiología , Humanos , Masculino , Datos de Secuencia Molecular , Enfermedad de la Neurona Motora/metabolismo , Enfermedad de la Neurona Motora/patología , Mutagénesis Sitio-Dirigida , Linaje
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