Teresa Di Filippo

Behavioral Phenotype and Autism Spectrum Disorders in Cornelia de Lange Syndrome.

Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. A significantly higher prevalence of self-injury are evident in CdLS. Self-injury was associated with repetitive and impulsive behavior. This study describes the behavioral phenotype of four children with Cornelia de Lange syndrome and ASDs and rehabilitative intervention that must be implemented.

Psychological aspects in children affected by Duchenne de Boulogne muscular dystrophy

Impairment of intelligence in Duchenne muscular dystrophy (DMD) patients was described by Duchenne de Boulogne himself in 1868. Further studies report intelligence disorders with mayor impairment of memory. The aim of the present study was to assess the presence of affective and personality disorders in a group of children affected by DMD. Twenty six male DMD patients, mean age eleven and four months years old, were assessed for their affective and personality disorder. Only eight subjects had a total IQ below average with major difficulties in verbal and visual-spatial memory, comprehension, arithmetic and vocabulary. All the subjects presented some disorders: tendency to marginalization and isolation, self-depreciation, sense of insecurity, hypochondriac thoughts and marked state of anxiety. These disorders are often a dynamic prolongation of a psychological process which starts when the diagnosis is made and continues, in a slow and latent fashion, throughout the evolution of the disease.

Sturge-Weber syndrome: a report of 14 cases

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 to those presented in literature for their main features. In particular, two elements are interesting: i) the exceptional diffusion of the red nevousto the whole hemicorpo; and ii) the evaluation of the way the patients live the disease, which has not beenpreviously considered in literature. We can conclude that SWS is a multisystem disorder that requires the neurologist to be aware of the possible endocrine, psychiatric, ophthalmological, and other medical issues that can arise and impact on the neurological status of the patients.

AUtonomic Regulation In Autism Spectrum Disorders

LUCIA PARISI1, MARGHERITA SALERNO2, AGATA MALTESE1, GABRIELE TRIPI3,4, PALMIRA ROMANO5, ANNABELLA DI FOLCO1, TERESA DI FILIPPO1, MICHELE ROCCELLA1 1Department of Psychological, Pedagogical and Educational Sciences, University of Palermo, Italy 2Sciences for Mother and Child Health Promotion, University of Palermo, Italy 3Department PROSAMI, University of Palermo, Italy 4Childhood Psychiatric Service for Neurodevelopmental Disorders, CH Chinon, France 5Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health and Physical and Preventive Medicine; Università degli Studi della Campania-Luigi Vanvitelli, Italy

Sensory perception in preschool children affected by autism spectrum disorder: A pilot study

LUCIA PARISI*, MARIA ROSARIA FORTUNATO**, MARGHERITA SALERNO***, AGATA MALTESE*, ANNABELLA DI FOLCO*, TERESA DI FILIPPO*, MICHELE ROCCELLA* *Department of Psychological, Pedagogical and Educational Sciences, University of Palermo, Italy **Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health and Physical and Preventive Medicine; Second University of Naples, Italy ***Sciences for Mother and Child Health Promotion, University of Palermo, Italy

Sleep habits in children affected by autism spectrum disorders: A preliminary case-control study

FRANCESCO PRECENZANO*1, MARIA RUBERTO*2, LUCIA PARISI3, MARGHERITA SALERNO4, AGATA MALTESE3, DOMENICO VERDE1, GABRIELE TRIPI5,6, PALMIRA ROMANO1, ANNABELLA DI FOLCO3, TERESA DI FILIPPO3, GIOVANNI MESSINA7, MICHELE ROCCELLA3 1Clinic of Child and Adolescent Neuropsychiatry; Headache Center for children and adolescents, Department of Mental Health and Physical and Preventive Medicine, Second University of Naples, Italy 2Department of Medical-Surgical and Dental Specialties, Second University of Naples, Italy 3Department of Psychological, Pedagogical and Educational Sciences, University of Palermo, Italy 4Sciences for Mother and Child Health Promotion, University of Palermo, Italy 5Department PROSAMI, University of Palermo, Italy6Childhood Psychiatric Service for Neurodevelopmental Disorders, CH Chinon, France7Department of Experimental Medicine, Section of Human Physiology and Unit of Dietetics and Sports Medicine, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy

THE QUALITY OF LIFE IN CHILDREN WITH CEREBRAL PALSY

LUCIA PARISI*1, MARIA RUBERTO*2, FRANCESCO PRECENZANO*3, TERESA DI FILIPPO1, CARMEN RUSSOTTO1, AGATA MALTESE1, MARGHERITA SALERNO4, MICHELE ROCCELLA1 1Department of Psychological, Pedagogical and Educational Sciences, University of Palermo, Italy 2Department of Medical-Surgical and Dental Specialties; Second University of Naples 3Clinic of Child and Adolescent Neuropsychiatry; Department of Mental and Physical Health and Preventive Medicine; Second University of Naples 4Sciences for Mother and Child Health Promotion, University of Palermo, Italy

Life events and primary monosymptomatic nocturnal enuresis: A pediatric pilot study

LUCIA PARISI*, MARIA ANTONIETTA FARALDO**, MARIA RUBERTO***, MARGHERITA SALERNO****, AGATA MALTESE*, ANNABELLA DI FOLCO*, GIOVANNI MESSINA*****, TERESA DI FILIPPO*, MICHELE ROCCELLA* *Department of Psychological, Pedagogical and Educational Sciences, University of Palermo, Italy **Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health and Physical and Preventive Medicine; Second University of Naples, Italy ***Department of Medical-Surgical and Dental Specialties, Second University of Naples, Italy ****Sciences for Mother and Child Health Promotion, University of Palermo, Italy *****Department of Experimental Medicine, Section of Human Physiology and Unit of Dietetics and Sports Medicine, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy

Executive functioning in preschool children affected by autism spectrum disorder: A pilot study

FRANCESCO PRECENZANO*, MARIA RUBERTO**, LUCIA PARISI***, MARGHERITA SALERNO****, AGATA MALTESE***, CLARA VAGLIANO* GIOVANNI MESSINA*****, ANNABELLA DI FOLCO***, TERESA DI FILIPPO*, MICHELE ROCCELLA*** *Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health and Physical and Preventive Medicine, Second University of Naples, Italy **Department of Medical-Surgical and Dental Specialties, Second University of Naples, Italy ***Department of Psychological, Pedagogical and Educational Sciences, University of Palermo, Italy ****Sciences for Mother and Child Health Promotion, University of Palermo, Italy *****Department of Experimental Medicine, Section of Human Physiology and Unit of Dietetics and Sports Medicine, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy

The quality of life in girls with Rett syndrome

Nowadays, quality of life is receiving an increasing attention in all scientific areas. Rett syndrome (RTT) is a rare neurological development, affecting mainly females. The congenital disease affects the central nervous system, and is one of the most common causes of severe intellectual disability. The aim of our study is to evaluate the effect of RTT on the quality of life of people who are affected. Both parents of 18 subjects, all female, diagnosed with RTT, took part in the research. Quality of life was assessed using the Italian version of the Impact of Childhood Illness Scale. This scale consists of 30 questions that investigate the effect of illness on children, parents and families. For each question, the parent was asked to rate two variables: frequency and importance. Another questionnaire was administered to obtain medical history, diagnostic and therapeutic data of the persons with RTT. Our data show that RTT has a considerable impact on both the child’s development and the entire family. Parents’ answers demonstrated that their child’s illness had consequences for the child and how the family coped with it. For this reason, attention should be directed at psychological and social aspects, as well as attitudes, manners, reactions and effects such disturbances can have on the entire family.