Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Purpose: Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS.

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

Purpose: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene. To date, no characteristic pattern of brain dysmorphology in MWS has been defined.

Methods: Through brain magnetic resonance imaging (MRI) analysis, we delineated a neuroimaging phenotype in 54 MWS patients with a proven ZEB2 defect, compared it with the features identified in a thorough review of published cases, and evaluated genotype-phenotype correlations.

Audit of digestive complaints and psychopathological traits in patients with eating disorders: a prospective study.

Background: Esophago-gastrointestinal symptoms are frequently reported by patients with eating disorders. Scanty data exist on the relationship between psychopathological traits and digestive complaints.

Aims: To prospectively analyze (i) prevalence of digestive symptoms; (ii) psychopathological traits; (iii) relationship between symptom scores and psychopathological profiles.

The relationship between alexithymia, shame, trauma, and body image disorders: investigation over a large clinical sample.

Background: The connections between eating disorders (EDs) and alexithymia have not been fully clarified. This study aims to define alexithymia's connections with shame, trauma, dissociation, and body image disorders.

Methods: We administered the Dissociative Experience Scale-II, Trauma Symptom Inventory, Experience of Shame Scale, Toronto Alexithymia Scale-20, and Body Uneasiness Test questionnaires to 143 ED subjects.

Drama therapy and eating disorders: a historical perspective and an overview of a Bolognese project for adolescents.

Objectives: The authors present a description of a theater workshop ("Metamorphosis Project"), developed at the Bologna Eating Disorders Center.

Design: The workshops are aimed at young, hospitalized patients, and are largely based on the principles of drama therapy. In this article, this therapeutic modality is introduced by a discussion of the theoretical basis for the use of theater in psychiatry from the points of view of several preeminent psychiatrists, including Freud, Winnicott, Klein, and Moreno.

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.

Generalized tonic-clonic seizure secondary to duloxetine poisoning: a short report with favorable out come.

Duloxetine is a potent and selective inhibitor of serotonin and norepinephrine reuptake (SNRI) with a weak activity over dopamine reuptake used in the treatment of major depressive disorder. Daily doses of 60 mg are effective in treatment of major depression. There are few cases of isolated duloxetine overdose in humans.

Psychometric evaluation of SAFA P test for eating disorders in adolescents: comparative validation with EDI-2.

Objective: This study evaluates the psychometric properties of self-administered psychiatric scale for children and adolescents with psychogenic eating disorders (SAFA P)--a brief self-report designed to screen and assess eating disorders (ED) in children and adolescents. Although SAFA P belongs to a broad battery of tests (SAFA) that explores different psychiatric conditions, it has not undergone appropriate validation until now.

Method: We administered SAFA P and Eating Disorder Inventory 2 (EDI-2) to 87 ED patients, with an average age of 15.

Epilepsy and trimethylaminuria: A new case report and literature review.

Trimethylaminuria is a metabolic disorder characterized by the excessive excretion of trimethylamine in bodily secretions, which confers a very unpleasant odour resembling that of dead fish. Literature reports only two cases affected by trimethylaminuria and epilepsy. We describe a third patient who, from the age of seven, was affected by temporal focal seizures with nocturnal episodes of nausea, vomiting, anxiety and autonomic activation followed by headache.

Emergent factors in eating disorders in childhood and preadolescence.

We have reviewed the literature related to the current advances in comprehension of Eating Disorders (ED) in childhood and preadolescence. The state of art regarding the psychodynamic models concerning the onset of ED are explained. DSM-IV and ICD-10 criteria are discussed, pointing out their little value in the characterization of early eating difficulties.

Prospective study on long-term treatment with oxcarbazepine in pediatric epilepsy.

Following a previous preliminary report on a group of children suffering from partial epilepsies, we present the final considerations on the same group in order to evaluate the long-term efficacy, tolerability and safety of oxcarbazepine (OXC). We enrolled 36 patients (mean age 8.5), between January 2003 and December 2004, with new diagnosis of partial epilepsy: 25 patients were affected by idiopathic partial epilepsy, eight by symptomatic epilepsy and three by cryptogenic epilepsy.

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 instument: 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.