A Comparison of Adaptive Functioning Between Children With Duplication 7 Syndrome and Williams-Beuren Syndrome: A Pilot Investigation.

Interstitial deletions of 7q11.23 cause the well-known Williams-Beuren Syndrome (WBS), while duplication of the same region leads to duplication 7 syndrome (Dup7). Children with WBS share a distinct neurobehavioral phenotype including mild to severe intellectual disability, severely impaired visual spatial abilities, relatively preserved verbal expressive skills, anxiety problems, enhanced social motivation (i.e., hypersociable behaviors) and socio-communicative problems. Children with Dup7 syndrome exhibit some "inverted" features when compared to those of individuals with WBS, such as reduced social motivation and impairment of expressive language. Direct comparison of WBS and Dup7 represents a unique opportunity for the neurobehavioral characterization of the 7q11.23 section. However, most of the available data come from qualitative analysis between different studies. To the best of our knowledge, there are no studies directly comparing features of two matched samples of individuals with WBS and Dup7 syndromes. In this pilot study, we compare the adaptive functioning - measured with the Vineland Adaptive Behavior Scales, Second Edition - of two relatively small samples of children with molecularly confirmed diagnosis of WBS and Dup7 matched for IQ and chronological age, with a particular attention to socialization domain and expressive subdomain. Contrary to our assumption, we have not found any significant difference on socialization domain and expressive subdomains. This pilot investigation suggests that, when matched for chronological age and cognitive level, children with WBS and Dup7 share more similarities than expected. The inverted features that emerge in clinical settings on expressive language and social motivation seem not to differently interfere with the daily abilities to communicate and socialize with meaningful others during daily lives. Differences highlighted by previous undirected comparisons could be due to general and non-specific factors such as cognitive level, which is more severely impaired in individuals with WBS than Dup7. Implications for assessment and treatment are discussed.

Gross, Fine and Visual-Motor Skills in Children with Language Disorder, Speech Sound Disorder and Their Combination.

Increasing evidence shows that children with Communication Disorders (CDs) may show gross, fine, and visual-motor difficulties compared to children with typical development. Accordingly, the present study aims to characterize gross, fine and visual-motor skills in children with CDs, distinguishing children with CDs into three subgroups, i.e., with Language Disorders (LD), Speech Sound Disorders (SSD), and LD + SSD. In Experiment 1, around 60% of children with CDs (4 to 7 years; 21 with LD, 36 with SSD, and 90 with LD + SSD) showed clinical/borderline scores in balance skills, regardless of the type of communication deficit. However, children with LD, SSD, and LD + SSD did not differ in gross and fine motor skills. In Experiment 2, a higher percentage of children with CDs (4 to 7 years; 34 with LD, 62 with SSD, 148 with LD + SSD) obtained clinical/borderline scores in Visual Perception skills. Moreover, children with LD + SSD performed significantly worsen in Visual Perception and Fine Motor Coordination skills compared to children with SSD only. Our results underlined that CDs are generally associated with gross motor difficulties and that visual-motor difficulties are related to the type of communication deficit. Paying earlier attention to the motor skills of children with CDs could help clinicians design effective interventions.

Recognition Memory in Noonan Syndrome.

Noonan syndrome (NS) and the clinically related NS with multiple lentiginous (NMLS) are genetic conditions characterized by upregulated RAS mitogen activated protein kinase (RAS-MAPK) signaling, which is known to impact hippocampus-dependent memory formation and consolidation. The aim of the present study was to provide a detailed characterization of the recognition memory of children and adolescents with NS/NMLS. We compared 18 children and adolescents affected by NS and NMLS with 22 typically developing (TD) children, matched for chronological age and non-verbal Intelligence Quotient (IQ), in two different experimental paradigms, to assess familiarity and recollection: a Process Dissociation Procedure (PDP) and a Task Dissociation Procedure (TDP). Differences in verbal skills between groups, as well as chronological age, were considered in the analysis. Participants with NS and NSML showed reduced recollection in the PDP and impaired associative recognition in the TDP, compared to controls. These results indicate poor recollection in the recognition memory of participants with NS and NSML, which cannot be explained by intellectual disability or language deficits. These results provide evidence of the role of mutations impacting RAS-MAPK signaling in the disruption of hippocampal memory formation and consolidation.

7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling.

7q11.23 Microduplication (dup7q11.23) syndrome is a rare autosomal dominant disorder due to a recurring 1.5 to 1.8 Mb duplication of the Williams-Beuren Syndrome critical region. Dup7q11.23 has been associated with several neuro-behavioral characteristics such as low cognitive and adaptive functioning, expressive language impairment, anxiety problems and autistic features. In the present study, we analyze the clinical features of ten individuals in which array-CGH detected dup7q11.23, spanning from 1.4 to 2.1 Mb. The clinical characteristics associated with dup7q11.23 are discussed with respect to its reciprocal deletion. Consistent with previous studies, we confirm that individuals with dup7q11.23 syndrome do not have a homogeneous clinical profile, although some recurring dysmorphic features were found, including macrocephaly, prominent forehead, elongated palpebral fissures, thin lip vermilion and microstomia. Minor congenital malformations include patent ductus arteriosus, cryptorchidism and pes planus. A common finding is hypotonia and joint laxity, resulting in mild motor delay. Neuropsychological and psychodiagnostic assessment confirm that mild cognitive impairment, expressive language deficits and anxiety are recurring neurobehavioral features. New insights into adaptive, psychopathological and neurodevelopmental profiles are discussed.

Anxiety disorders in acute central nervous system infections.

BACKGROUND: Patients affected by acute central nervous system (ACNS) infectionsmay present different complications, including neuropsychological disorders. Nevertheless, psychopathological impairment has been rarely measured by appropriate and validated tests. MATERIAL AND METHODS: Survivors of childhood ACNS infections admitted to the Bambino Gesù Children's Hospital, Rome, Italy, from June 2013 to June 2015 were re-evaluated at follow-up from June 2016 to June 2017. Both patients and their parents underwent a psychological interview and neuropsychological tests (the Leiter International Performance Scale - revised (Leiter-R), the Child Behaviour Checklist (CBCL), the K-SADS-PL test). RESULTS: Thirty children were included in the study. The mean score of IQ and fluid reasoning was within the normal range. A percentage of 20% of the children enrolled showed criteria for generalized anxiety disorder. CONCLUSION: Our study revealed the importance of follow-up evaluations after ACNS infections, in order to prevent mayor psychological sequelae and to perform treatment or rehabilitation.

Correction to: Neuropsychological and internalizing problems in acute central nervous system infections: a 1 year follow-up.

CORRECTION: The original article [1] contained an error mistakenly carried forward by the Production department handling this article whereby all authors' names were incorrectly inverted. The original article has now been corrected to reflect the correct names of all authors.

Neuropsychological and internalizing problems in acute central nervous system infections: a 1 year follow-up.

BACKGROUND: Acute central nervous system (ACNS) infections such as meningitis, encephalitis and cerebellitis still cause morbidity and mortality among children. The aim of this study was to verify whether neuropsychological impairment may develop in ACNS survivors. METHODS: The study included pediatric patients affected by ACNS disorders, aged 3-16 years admitted to the Bambino Gesù Children Hospital, Rome from June 2013 till June 2015. The patients and their parents underwent a psychological interview and neuropsychological tests during the first week of hospital admission and 1 year after, during a follow-up control. Wilcoxon signed rank tests for paired data were conducted to verify if the results were statistically importance. Patients underwent a cognitive profile test through the Leiter international performance scale - revised, motor skills evaluation through the test of visual-motor integration and a psychopathological evaluation by the child behavior checklist. The K-SADS-PL test was administered in children 6-11 years old to check psychopathological disorders. RESULTS: Forty-four patients were included in the study. At the 1 year follow-up, "anxiety problems" (dependency, fears, worries, nervousness) developed in 47% of patients, "somatic problems" (aches, headaches, nausea, vomiting) in 29% and "affective problems" (crying, self-harming, worthlessness, guilt, tiredness, sadness) in 29%. Visual perception was statistically increased at the 1 year follow-up in our patient cohort (p = 0.0297), mainly among the meningitides group (p = 0.0189). Motor-coordination also increased at the follow-up check in the study participants (p = 0.0076), especially in the group affected by cerebellitis (p = 0.0302). CONCLUSIONS: Neuropsychological disorders are often difficult to recognize in the early stage. They must, however, be promptly identified through specific and standardized neuropsychological examinations in order to avoid long term sequelae in adulthood.

Current Psychopathological Symptoms in Children and Adolescents Who Suffered Different Forms of Maltreatment.

The aim of the present study is to evaluate the current psychopathological problems of different forms associated with maltreatment on children's and adolescents' mental health. Ninety-five females and ninety males with a mean age of 8.8 years who have suffered in the last six months different forms of abuse (physical, sexual, and emotional) and neglect were included in the study. The current reaction to trauma as directly observed by clinical instruments was examined. Differences in gender, age at the time of medical examination, familial psychiatric disorders, neuropsychiatric status, and type of maltreatment were also taken into account. Results documented that 95.1% of abused children and adolescents developed a psychiatric disorder or a subclinical form of a Posttraumatic Stress Disorder (PTSD). Moreover, our data demonstrate a role for gender, age, and familial psychiatric comorbidity in the current psychopathological problems associated with maltreatment. Overall, our findings can help clinicians make a diagnosis and provide efficient treatment and prevention strategies for child maltreatment and abuse.