Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases.

Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a rare genetic disorder first diagnosed in 1981. Kabuki make-up syndrome (KMS) is a multiple malformation/intellectual disability syndrome that was first described in Japan but is now reported in many other ethnic groups. KMS is characterized by multiple congenital abnormalities: craniofacial, skeletal, and dermatoglyphic abnormalities; intellectual disability; and short stature. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. The KS is associated with mutations in the MLL2 gene in some cases were also observed deletions of KDM6A. This study describes three children with autism spectrum disorders (ASDs) and KS and rehabilitative intervention that must be implemented.

The quality of life in developing age children with celiac disease.

AIM: The moments that follow the diagnosis of celiac disease and the early stages of the gluten-free diet are extremely difficult and complex for parents and child, because they face an important change punctuated by self-denial and deprivation. The main objective of this research is to assess the impact of celiac disease on quality of life in subjects in developmental age, taking into account the perceptions of parents about the child's illness, with the aim to highlight the effect of disease on the child and the entire family. METHODS: The study included both parents of 45 children aged between 2 and 10 years, with established celiac disease. To evaluate the effect of celiac disease on the lifestyle of affected children and their families has been used, after having adapted to the Italian context, the Impact Scale of Childhood Diseases of Hoare and Russell (1995). This study shows that celiac disease is a condition that has a significant impact on both the child and his family. RESULTS AND CONCLUSION: The results obtained by administration of Impact Scale of Childhood Diseases to parents showed that subjects in developmental age with celiac disease could have difficulty on emotional level that affect child development and the whole family context. Acceptance of the illness by the child depends mainly by how much and how this has been accepted by parents.

Evaluation of creative thinking in children with idiopathic epilepsy (absence epilepsy).

AIM: Creativity represents the silent character of human behaviour. In children with epilepsy, cognitive performance of has mainly been investigated under the assumption that the disorder represents a risk factor for the development of intellectual function. In subjects with different forms of epilepsy, neuropsychologic disorders have been detected even when cognitive-global functioning is unimpaired. The cognitive functions of subjects with epilepsy have been widely studied, but their creativity has been never evaluated to date. The aim of this study was to describe the development of creative thinking in a group of children with absence epilepsy. METHODS: The test battery included: the Torrance Test of Creative Thinking (TTCT), the Wechsler Intelligence Scale for Children-revised (WISC-R) and the Goodenough Human Figure Drawing Test. RESULTS: Statistical analysis (Mann-Whitney test) showed a statistically significant difference (P <0.05) in test scores between two groups of subjects (children with epilesy vs control group), with higher scores for figure originality, figure fluidity and figure elaboration in the control group. There was a significant correlation (Spearman's rho) between verbal IQ and verbal fluidity and verbal flexibility subscale scores and between performance IQ and figure elaboration, between total IQ and verbal fluidity and verbal flexibility subscales (P <0.05; r >0.30). CONCLUSION: Low scores on the figure originality subscales seem to confirm the hypothesis that adverse psychodynamic and relational factors impoverish autonomy, flexibility and manipulator interests. The communication channels between subjects with epilepsy and their family members were affected by the disorder, as were the type of emotional dynamics and affective flux.

Hypomelanosis of Ito: neurological and psychiatric pictures in developmental age.

Hypomelanosis of Ito (HOI) is a multisystem neurocutaneous disorder. In the described cases, cutaneous manifestations (unilateral or bilateral streaks and swirls of hypomelanosis with regular and confluent borders) and extracutaneous abnormalities are often associated. Extracutaneous abnormalities involve the musculoskeletal system (scoliosis, vertebral anomalies, cranial-facial malformations) and other organs, as well as the central nervous system (CNS). The most significant anomalies of the CNS are psychomotor retardation and cognitive deficit. Autism, epilepsy, language disorders, cerebral malformations (neural migration disorders, cerebral hypoplasia, cortical atrophy, agenesis of the corpus callosum) are sometimes present. Numerous abnormal chromosomal patterns have been observed. HOI is usually a sporadic disorder; though autosomal dominant transmission has been suggested, recessive and X-linked inheritance patterns have also been reported. This study describes five children with HOI presenting with various features of the clinical spectrum of the syndrome. Some of these cases were referred for psychomotor therapy as part of an integrated neuropsychologic and psychomotor treatment support program. In this view, psychomotor treatment aims to promote the emotional-relational component, to overcome rigid divisions, and to integrate learning-related cognitive aspects with psychodynamic concepts. Finally, the goals of psychological and social support are to help the parents accept their child's handicap, understand the child's behavior, plan future pregnancies, and foster an environment for their child's integration.

A case of femoral-facial syndrome in a patient with autism spectrum disorders.

The Femoral hypoplasia - unusual facies syndrome (FHUF) or Femoral - facial syndrome (FFS) was at first described in 1975. Up to now about 60 cases have been reported. According to our knowledge only 4 cases have had congenital central nervous system's malformations, furthermore the main stages of psychomotor development are almost always reported as normal or slightly altered in early childhood. We describe the first case of autism spectrum disorders (ASD) in a patient with FFS, emphasizing that this rare association could be one of many unrecognized underlying features.

[Description and evaluation of creative thinking in preterm low birth weight infants]. / Descrizione e valutazione del pensiero creativo in bambini pretermine con basso peso alla nascita.

AIM: Since the 1950s, the problem of how to evaluate creativity has been addressed in studies on the definition of measurement criteria and on the relationship between intelligence and creative thinking. Many revealed cognitive and relational disorders in preterm infants, particularly in preterm very low birth weight infants (birth weight <1500 g) and in infants with serious complications. This study describes the development of creative thinking in a group of children born preterm. METHODS: The study sample was 43 children (21 males, 22 females; age range 6-11 years), regularly attending school, born with low birth weight (1050-2450 g) at 29-32 weeks gestational age, and compared with a control group with birth weight >2500 g. The test battery included: Torrance Test of Creative Thinking (TCTT); WISC-R intelligence test; Goodenough Human Figure Drawing Test. RESULTS: Statistical analysis (Mann-Whitney U test) showed a statistically significant difference (P>0.05) between the 2 groups; scores for figure originality, figure fluidity and figure elaboration were consistently higher in the control group. Within the low birth weight group, there was a significant correlation (Spearman r) between verbal IQ and verbal fluidity and verbal flexibility subscale scores and between IQ performance and figure elaboration. Scores on the figure drawing tests showed higher creative ability in the control group. CONCLUSIONS: In children born preterm with low birth weight, emotive dynamics and flow of affection may influence the channels of communication between child and family. The low figure originality subscale scores support the hypothesis that psychodynamic and relational factors (worry about the preterm condition, overprotective behaviour by parents and others) could lead to diminished autonomy, flexibility and manipulatory interest in the child.

Risk behaviours among young people. Evaluation and descriptive analysis.

AIM: Risk behaviours--as they are defined by specialist literature for the damage these behaviours cause to young people's health and/or life--are getting more and more frequent among young people. They range from self-injuring behaviours to the consequences of a precocious, high-risk and/or promiscuous sexual activity, from abnormal eating behaviours to the deaths from fun. METHODS: The inquiry concerned a group of university students (100 males and 100 females), selected at random from the Faculties of Medicine and Surgery, Psychology, Economy and Jurisprudence of the University of Palermo, who were asked to answer a questionnaire composed of 91 questions and structured in 4 sections. The first section regards associate-identifying information; the second one inquires on experiences and requirements concerning sexuality; the third section explores the state of health and the use of drugs and alcohol; the fourth section looks into relations with others. RESULTS: The analysis of our data revealed that young people have different high-risk behaviours (use of drugs and alcohol, non protected sexual intercourse, carelessness for one's and one's partner's serological state); this is associated to poor information, as complained by the people interviewed, on the prevention of sexually transmissible diseases, use of drugs and alcohol. CONCLUSIONS: The conclusion is drawn that the new modalities of the assumption of risk by young people would correspond to the climate of vagueness, lack of limits, meanings and values which characterize the present society.