Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome.

Our study aims to define resting energy expenditure (REE) and describe the main nutritional patterns in a single-center cohort of children with Smith-Magenis syndrome (SMS). REE was calculated using indirect calorimetry. Patients' metabolic status was assessed by comparing measured REE (mREE) with predictive REE (pREE). Patients also underwent multidisciplinary evaluation, anthropometric measurements and an assessment of average energy intake, using a 3-day food diary, which was reviewed by a specialized dietitian. Twenty-four patients (13 M) were included, the median age was 9 years (IC 95%, 6-14 years), 84% had 17p11.2 deletion, and 16% had RAI1 variants. REE was not reduced in SMS pediatric patients, and the mREE did not differ from the pREE. In patients with RAI1 variants (16%, n = 3/24), obesity was more prevalent than those with 17p11.2 deletion (100% vs 38%). Lower proteins intake and higher total energy intake were reported in obese and overweight patients, compared to healthy weight children. No significant difference was found between males and females in energy or macronutrient intake. CONCLUSIONS: In SMS, the onset of obesity is not explained by REE abnormalities, but dietary factors seem to be crucial. Greater concern should be addressed to patients with RAI1 variants. A better understanding of the molecular mechanisms causing obesity in SMS patients could set the basis for possible future targeted therapies. WHAT IS KNOWN: • More than 90% of SMS patients after the age of 10 are overweight or obese. WHAT IS NEW: • Onset of overweight and obesity in SMS pediatric patients is not explained by abnormal resting energy expenditure. • The development of syndrome-specific dietary guidelines for SMS patients should be of utmost relevance and are highly needed.

Early development of epileptic infants with pre- or perinatal brain injuries: role of the epileptic disorder.

To try to understand the causative role of epilepsy PER SE in the developmental deterioration of brain injured infants, twenty-eight infants affected with early acquired, pre- and perinatal brain injuries were enrolled and divided into three groups, a) those with West syndrome, b) those with other non-West epilepsies, and c) those without epilepsy. Developmental monitoring consisted of a full clinical assessment, including examination of visual function, Griffiths developmental scales, standard EEG, long-term monitoring when necessary, and MRI, from the seizure onset or the first observation to the end of follow-up. Patients with epilepsy showed at study onset abnormal clinical features (neurological and developmental) distinct from those of non-epileptic patients, partially due to the varying severity of their brain injuries. A definite differentiation between groups was observed in the clinical evolution that showed among the epileptic patients, mostly in West syndrome, a significant deterioration. Moreover, impaired visual function at seizure onset was possibly associated with a bad developmental evolution. A developmental deterioration, mostly in West syndrome, accounts for a causative role of the epileptic disorder PER SE, but in few cases it was also observed in infants with only a brain injury, suggesting other aetiopathogenic mechanisms. The predictive value of early visual function seems to be confirmed.

Early hemispherectomy in catastrophic epilepsy: a neuro-cognitive and epileptic long-term follow-up.

The authors report their experience about a neuro-cognitive and epileptic long-term follow-up of children with catastrophic epilepsy treated with hemispherectomy in the first 5 years of life. Nineteen children with resistant epilepsy that significantly interfered with their neuro-cognitive development underwent hemispherectomy within 5 years of life (mean: 2 years, 3 months; range: 5 months to 5 years). All patients were assessed before surgery and after, at least at the end of the follow-up (mean: 6 years and 6 months; range: 2-11 years and 2 months) with a full clinical examination including motor ability and functional status evaluation as well as behaviour observation, neuroimaging and an ictal/interictal prolonged scalp video-EEG. A seizure-free outcome was obtained in 73.7% of patients. Gross motility generally improved and cognitive competence did not worsen, with an evident progress in two cases. Consistently with previous reports, evolution was worse in cortical dysplasia than in progressive or acquired vascular cerebropathies. The excellent epileptic outcome and the lack of developmental deterioration in comparison with other more aged series seem to suggest a possible better evolution in earlier surgery treatment. To confirm this suggestion, however, further experience with larger series is needed.

Pediatric rehabilitation of severe acquired brain injury: a multicenter survey.

BACKGROUND: Epidemiological and descriptive data concerning the clinical and socio-demographic characteristics of severe acquired brain injuries (ABI) in pediatric age are meager. In particular, in Italy we only find data concerning traumatic brain injury (TBI) in adults. Earlier data show that the most prevalent etiology in ABI is traumatic and that greater clinical impairments are reported for patients with non-traumatic etiologies. AIM: The main aims of the GISCAR (Gruppo Italiano per lo Studio delle Gravi Cerebrolesioni Acquisite e Riabilitazione) study are: 1) to define the clinical features of pediatric patients with severe neurological disabilities; 2) to determine the etiology and onset modality of the cerebral lesions; and 3) to analyse the characteristics of the rehabilitation processes and patient outcome in terms of disability, strategies for treatment and clinical picture. DESIGN: Quasi-epidemiologic. SETTING: In-patient. POPULATION: 184 pediatric patients with severe ABI were recruited. METHODS: Data collection was done by means of an assessment protocol created and used by a group of Italian neurorehabilitation centers. Traumatic and non traumatic aetiologies (NTBI) have been treated separately. RESULTS: Traumatic etiology of ABI is the most prevalent (51.6%, N. 95) and about twice as many males as females are involved. Of these cases, 70.5% (N. 67) are the result of a car accident, either as a pedestrian or as a passenger, representing a crucial area for preventive action by the public health services. Eighty-six (46.7%) patients were in the acute state, 19 (10.3%) in subacute state and 76 (42.9%) in chronic condition. The results show that the positive trend for the TBI group was steeper than for NTBIs. Neuropsychological data are also discussed. CONCLUSIONS AND CLINICAL REHABILITATION IMPACT: We report the first Italian descriptive study on pediatric patients affected by ABI of traumatic or non traumatic etiology. The main points concerning rehabilitation are that major differences between aetiologies must be taken into account and that ABI of any severity in the acute phase may lead to long term disability, confirming the high social and economic impact of this pathology. Our study demonstrates the great importance of providing specialised rehabilitation centers for pediatric patients, and increases awareness of the importance of ABI prevention.

Functional hemispherectomy in children with epilepsy and CSWS due to unilateral early brain injury including thalamus: sudden recovery of CSWS.

PURPOSE: To try to prove in patients with refractory symptomatic epilepsy due to early brain injury involving thalamus and complicated by CSWS the effects of the isolation of the injured hemisphere, performed with functional hemisperectomy, on epilepsy, namely on CSWS. METHODS: Full clinical follow-up before and after surgery of two cases with CSWS onset at four years in whom functional hemispherecomy was performed with resection of inter-hemispheric connections. RESULTS: An immediate effectiveness of the surgical treatment was observed on both epileptic evolution (no more seizures) and EEG abnormalities. In particular, CSWS completely disappeared, together with a concurrent progressive improving of the cognitive and behavioural disorders. DISCUSSION: The isolation of the injured hemisphere through the section of inter-hemispheric cortico-cortical connections could prevent the contralateral diffusion of discharges coming from the injured cortex and cortico-thalamic network, favouring a normal function of thalamo-cortico-thalamic circuitries in the healthy hemisphere. That could explain the disappearance of CSWS after surgery in our patients and the consequent improvement of cognitive abilities and behaviour.

Seizure semiology of lesional frontal lobe epilepsies in children.

The aim of the study was to analyse the semiology of seizures in children with frontal lobe epilepsy (FLE) and to compare them with other paediatric cohorts described in the literature as well as with adult counterparts. We analysed 174 registered seizures of 18 cases under 12 years with lesional epilepsy whose frontal origin was defined by the concordance of neuroimaging and ictal electrographic findings, and confirmed by surgery in the six cases operated on. Seizures were generally short, with a high daily frequency and usually related to sleep. The most characteristic semiological pattern consisted of complex motor seizures, particularly hypermotor. Often seizures corresponded to a mixture of different semiological patterns (tonic, gelastic, automotor, hypermotor, versive) presenting in the same seizure, often as a unique type in the same patient. With regard to several aspects the semiology of FLE in our cohort looks like that reported in adult series, in particular as to the frequency of complex motor seizures. However, our cohort was also characterised by a more protean array of seizure semiology, stressing the occurrence of seizures typically present in adults (versive and complex motor) and of some seizure patterns more characteristic in children such as epileptic spasms; moreover, the rare occurrence of secondarily generalised tonic clonic seizures (SGTCS) was confirmed.