Ilaria Cecconi

Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up.

Corticosteroid treatment is the standard of care in Duchenne muscular dystrophy (DMD), but the optimal age to initiate treatment and dosage pattern remain a matter of discussion.

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.

Mowat–Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and is characterized by distinctive facial features, epilepsy, moderate to severe intellectual disability, corpus callosum abnormalities and other congenital malformations. Epilepsy is considered a main manifestation of the syndrome, with a prevalence of about 70–75%. In order to delineate the electroclinical phenotype of epilepsy in MWS, we investigated epilepsy onset and evolution, including seizure types, EEG features, and response to anti‐epileptic therapies in 22 patients with genetically confirmed MWS. Onset of seizures occurred at a median age of 14.5 months (range: 1–108 months). The main seizure types were focal and atypical absence seizures. In all patients the first seizure was a focal seizure, often precipitated by fever. The semiology was variable, including hypomotor, versive, or focal clonic manifestations; frequency ranged from daily to sporadic. Focal seizures were more frequent during drowsiness and sleep. In 13 patients, atypical absence seizures appeared later in the course of the disease, usually after the age of 4 years. Epilepsy was usually quite difficult to treat: seizure freedom was achieved in nine out of the 20 treated patients. At epilepsy onset, the EEGs were normal or showed only mild slowing of background activity. During follow‐up, irregular, diffuse frontally dominant and occasionally asymmetric spike and waves discharges were seen in most patients. Sleep markedly activated these abnormalities, resulting in continuous or near‐to‐continuous spike and wave activity during slow wave sleep. Slowing of background activity and poverty of physiological sleep features were seen in most patients. Our data suggest that a distinct electroclinical phenotype, characterized by focal and atypical absence seizures, often preceded by febrile seizures, and age‐dependent EEG changes, can be recognized in most patients with MWS.

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype

By array-CGH, we identified a cryptic deletion of about 3.4 Mb involving the chromosomal region 11q13.2q13.4 in a child with speech and developmental delay. Highly homologous segmental duplications related to the well-known olfactory receptor (OR)-containing clusters at 8p and 4p are located at the breakpoints of the imbalance and may be involved in its occurrence. Although these structural features are known to promote recurrent chromosomal rearrangements and previous studies had included the 11q13.2q13.4 deletion region among those considered potentially more unstable, neither deletions nor duplications of this region had been reported until now. Among the deleted genes, SHANK2 might play a role in the phenotype of the patient since it encodes a postsynaptic scaffolding protein similar to SHANK3, whose haploinsufficiency is a well-known cause of severe speech delay and autistic-like behavior, and recently deletions and mutations of SHANK2 have been described in patients with an autistic spectrum disorder or mental retardation.

SAFA: A new measure to evaluate psychiatric symptoms detected in a sample of children and adolescents affected by eating disorders. Correlations with risk factors

In order to evaluate the psychiatric symptoms associated with a diagnosis of eating disorders (ED) we have administered a new psychometric instrument: the Self Administrated Psychiatric Scales for Children and Adolescents (SAFA) test. SAFA was administered to a cohort of 97 patients, aged from 8.8 to 18, with an ED diagnosis. Age, body mass index (BMI) and BMI standard deviation score were analyzed. Furthermore, while looking for linkable risk factors, we evaluated other data that took an influence over the SAFA profile, like parental separation and family components’ number. Compared to the range of statistical normality (based on Italian population), patients with bulimia nervosa or binge-eating disorder showed higher and pathologic values in specific subscales. When analyzing sex, males showed more pathologic values in most anxiety-related, obsessiveness–compulsiveness-related and insecurity subscales. A correlation among age, BMI and specific subscales (low self esteem, psychological aspects) emerged in participants with anorexia nervosa. In order to plan more appropriate diagnostic and therapeutic approaches in children or adolescents suffering from ED, the SAFA test can be an important instrument to evaluate psychiatric symptoms. Therefore, we propose to include this useful, simple self-administered test as a new screening tool for ED diagnosis.

Open prospective study on oxcarbazepine in epilepsy in children : A preliminary report

PURPOSE To evaluate the long-term efficacy, tolerability, and safety of oxcarbazepine (OXC) in children with epilepsy. METHODS We enrolled 36 patients (median age 7.75) with new diagnosis of partial epilepsy in an open prospective study. All type of epilepsy were included: 25 patients were affected by idiopathic epilepsy, eight by symptomatic epilepsy and three by cryptogenic epilepsy. Patients were then scheduled to come back for controls at 3 months (T1), 12 months (T2) and 24 months (T3) after the beginning of OXC-monotherapy (T0). At each control we evaluated patients through their seizure diary, a questionnaire on side effects, their level of 10-monohydroxy (MHD) metabolite and laboratory analysis. RESULTS At T1, 21/36 patients (58.3%) were seizure-free, 3/36 patients (8.3%) showed an improvement higher than 50%, 3/36 (8.3%) lower than 50%, while 2/36 worsened (5.6%). In 7/36 (19.5%) patients, no improvement was reported. At T2 13/18 patients (72.2%) were seizure-free, 1/18 showed a response to therapy higher than 50% while 2/18 worsened (11%). In two patients no improvement was reported. A correspondence between MHD plasmatic levels and clinical response (r=0.49; p<0.05) was only registered at T1. An EEG normalization was observed in 25% of cases. Side effects were reported in 25% of cases, but symptoms progressively disappeared at follow-up. CONCLUSIONS We can therefore conclude that OXC can be considered, for its efficacy and safety, as a first line drug in children with epilepsy.

Preliminary report on effects of oxcarbazepine-treatment on serum lipid levels in children

The aim of the present study was to assess serum lipid levels before and after treatment with oxcarbazepine (OXC) in children with epilepsy. We measured total cholesterol (TC), triglycerides (TGs) and high‐density lipoprotein cholesterol (HDL‐C) in 28 patients whereas only TC levels in 11 patients, during baseline period and at 3 months after the beginning of therapy with OXC. During baseline period, median values were: 4.38 mmol/l (IQR = 4.12–5.03) for TC levels, 1.72 mmol/l (IQR = 1.42–2.01) for HDL‐C levels and 1.54 mmol/l (IQR = 1.29–1.96) for TGs levels. At 3 months, median values were: 4.38 mmol/l (4.10–4.95) for TC levels (P < 0.05), 1.57 mmol/l (1.34–1.93) for HDL‐C levels (P < 0.005) and 1.8 mmol/l (1.23–2.34) for TGs levels (P < 0.05). Median serum lipid levels remained in the normal range, despite an increasing‐trend at 3 months of treatment with OXC. Further studies are necessary to confirm these results.

Case Report of Pyruvate Dehydrogenase Deficiency With Unusual Increase of Fats During Ketogenic Diet Treatment

This article describes a case of pyruvate dehydrogenase deficiency in a 3-year-old boy who presented generalized hypotonia, severe psychomotor development delay, and generalized and partial seizures and was refractory to antiepileptic drugs. After the diagnosis, the patient was put on a ketogenic diet. Six months later, seizure frequency was reduced and psychomotor development had improved. At the same time he presented some side effects, such as 2 episodes of significant increases in cholesterol and triglycerides associated with viral respiratory infections. The latter decreased with a supplementation of ω-3 fatty acids and an increase in caloric intake.

Clinical features of benign infantile convulsions: Familial and sporadic cases

The authors describe the so-called benign convulsions of infancy and confirm the existence of benign nonfamilial infantile convulsions during the first 2 years of life and their benign course. The authors evaluated 58 patients: 17 subjects had a family history of benign epilepsy, and 41 did not. No clinical differences were observed between the two groups.

I disturbi del comportamento alimentare (DCA): riflessioni e problematiche

Eating disorders (ED) are an important cause of physical and psychosocial morbidity in adolescents and young adults, characterized by aberrant patterns of eating behavior and weight regulation and by disturbances in attitudes towards weight and perception of body shape. This article, through the description of a clinical case, focuses on the complexities of clinical management and on the importance of an integrated approach.