Neurodevelopmental and emotional-behavioral outcomes in late-preterm infants: an observational descriptive case study.

BACKGROUND: Over the last decade, several studies investigated the outcomes in children born very preterm. Only recently there has been an increasing interest in the late preterm infants (born between 34 + 0 and 36 + 6 weeks). This population is at high risk of morbidity and mortality in the first years of life. Other studies reported that they are also at risk of long-term developmental problem. Therefore, the aim of this study is to describe the neurodevelopmental and emotional-behavioral outcome in a sample of late preterm patients. METHODS: The study included late preterm children and adolescents who had neuropsychiatric and/or neurological symptoms. They underwent a general, neurocognitive and an emotional-behavioral assessment. Exclusion criteria included: patients affected by Central Nervous System congenital abnormalities, neurodegenerative diseases, genetic disorders, epilepsy, or in pharmacological treatment, or adopted children. A descriptive statistics analysis was performed to describe the sociodemographic and clinical characteristics of patients. Risk factors related to late preterm birth, prevalence of neurodevelopmental disorders, and cognitive functioning were recorded and analyzed. RESULTS: The sample included 68 LPI (45 males and 23 females) aged from 2 to 16.3 years (mean age 7,5 years), who were affected by one or more neurodevelopmental disorder, including Language Disorder, Attention Deficit Hyperactivity Disorder, Specific Learning Disorder, Developmental Coordination Disorder, Intellectual Disability and Autism Spectrum Disorder. Moreover, in 30.8% of patients, internalizing problems (affective and social skills problem) were detected. CONCLUSIONS: Our results support the importance of a long-term surveillance of late preterm and the great need for more longitudinal large population studies in order to collect data on the neurodevelopmental outcomes of this population.

Exploring Visual Perspective Taking and body awareness in children with Autism Spectrum Disorder.

INTRODUCTION: Recent evidence suggests that impairments in social cognition are associated to the cognitive abilities needed to take several viewpoints in perceptual situations and body awareness. The aim of the current study was to investigate Visual Perspective Taking (VPT) and Body awareness performance in a group of children with Autism Spectrum Disorders (ASD) compared with a group of children with Intellectual Disability (ID) and typically developing (TD) children. METHODS: Our groups were administered an IQ test and a VPT task, and body awareness tests. RESULTS: Children with ASD or ID were more impaired in body awareness development compared to TD (p < .001) children. The ASD group differentiates largely from the other two groups in the mean VPT (p < .001) scores. CONCLUSIONS: The current study provides a framework for considering social impairments in autism on a broader scale, including visuoperceptual and body awareness difficulties as a core contributor to social interaction difficulties.

Early onset first episode psychosis: dimensional structure of symptoms, clinical subtypes and related neurodevelopmental markers.

Despite the growing interest in a dimensional approach to the assessment of symptoms and clinically relevant phenomena in schizophrenia spectrum disorders, very few studies, to date, have examined the dimensional structure of symptoms in early onset first episode psychosis. In the present study, we assessed a sample of 60 children and adolescents of both sexes with first episode schizophrenia spectrum psychosis. A principal component analysis (PCA) of the Positive and Negative Syndrome Scale (PANSS) was performed and the factors obtained were used to carry out a cluster analysis. Sex, age of onset before or after 13, markers of early neurodevelopmental impairment and intellectual disabilities were considered as variables to characterized potential clinical subtypes, applying a one-way analysis of variance. Four factors were extracted ("negative symptoms", "delusions", "conceptual disorganization" and "paranoid/hostility"), each of them identifying a discrete clinical subtype of patients. No difference was found among the groups about sex and age of onset; delayed speech/language development was significantly associated with the "delusions" subtype and both "conceptual disorganization" and "delusions" subtypes showed a lower intelligence quotient (IQ). The four factors model we presented highlights "negative symptoms" as the most consistent factor; among positive symptoms, unusual thought content and conceptual disorganization resulted more distinctive of psychosis, at this age range, than perceptual abnormalities. Evolutionary trajectories of the four clinical subtypes we obtained seem to be influenced by cognitive and neurodevelopmental impairment rather than sex and age of onset.

Qualitative and quantitative revaluation of specific learning disabilities: a multicentric study.

BACKGROUND: Specific learning disabilities are disorders that affect the instrumental skills of academic learning, leaving intact the general intellectual functioning. It is possible to distinguish: dyslexia, dysorthography, dysgraphia, and dyscalculia. The diagnosis is made according to DSMV. The aim of this study is to evaluate the implementation of Law N° 170 following a diagnosis of specific learning disabilities in children and their evolution over time. METHODS: The sample under examination consists of 75 children, 56 males and 18 females aged 7,8 to 16 years, with a diagnosis of specific learning disabilities; a revaluation was carried outthrough the use of standardized instruments according to age and school attended. A twopart questionnaire was proposed: the first part turned to the parents/carers of the child and the second part turned to the boy himself. The improvement parameter has been linked, through a statistical analysis of univarianza with intelligence quotient, age, application of the law 10 October 2010 n 170, rehabilitative paths and attending afterschool program. RESULTS: Most of the guys are followed at school by the application of the law 170 and, outside school, by attending speech and neuropsychological therapy and after school. Going to investigate the actual use of the measures put in place by the school, it is evident a partial and incomplete application of Law 170. CONCLUSIONS: The most suitable measures for these children are pedagogical measures in order to make them integrate with the group class and strengthen their capacities through specific measures provided by a specific legislative decree.

Can PEP-3 Provide a Cognitive Profile in Children with ASD? A Comparison Between the Developmental Ages of PEP-3 and IQ of Leiter-R.

BACKGROUND: The assessment of the intelligence quotient (IQ) in children with autism spectrum disorder (ASD) is important to plan a detailed therapeutic-educative programme. The aim of the study was to evaluate the usefulness of the Psychoeducational Profile-third edition (PEP-3) to estimate the general cognitive development of children with ASD. METHOD: We recruited 30 children with ASD assessed with the Leiter International Performance Scale-Revised (Leiter-R) and the PEP-3. We compared the IQ of the Leiter-R with the developmental level (DL) of PEP-3. RESULTS: The findings showed a significant positive correlation between IQ with DL of the cognitive verbal/pre-verbal (P = 0.0005), DL of the area of expressive language (P = 0.0004), DL of the area of receptive language (P = 0.0001), DL of fine motor (P = 0.0066), DL of gross motor (P = 0.0217), DL of visuo-motor imitation (P = 0.02), DL of communication (P = 0.0001) and DL of motor (P = 0.0063). CONCLUSIONS: These findings show that the DLs could be considered as indicators of cognitive functioning in ASD.

Autism spectrum disorders in XYY syndrome: two new cases and systematic review of the literature.

UNLABELLED: Abnormalities of the sex chromosomes (47, XXY, 47 XYY, 45,X/46,XY mosaicism) are frequently associated with Autism Spectrum Disorders (ASD), but the male predisposition to these disorders has not been clearly explained. Previously, the role of the X chromosome was considered important in the ASD mainly because autistic symptoms were detected in genetic syndromes involving X chromosome (fragile X syndrome, Rett syndrome, Klinefelter syndrome). Instead, few studies have analyzed the possible role of the Y chromosome in the ASD. This study explores the role of the Y chromosome in ASD through a systematic literature review about the association between ASD and XYY syndrome and a description of two new cases with this association. The literature review considered studies published in peer-reviewed journals, included in the MEDLINE and PubMed databases, that examined the association between ASD and XYY syndrome. Few studies reported the occurrence of ASD in children with XYY karyotype and the majority of them did not reported a well-defined autism diagnostic category associated with an extra Y chromosome, but several clinical conditions that are generically described as language and social impairment. CONCLUSION: This study underlines the underestimated role of the Y chromosome in ASD, and we postulate that all the ASD associated with the XYY karyotype may presumably fall within mild degree of ASD as in our cases.

Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion.

BACKGROUND: Microphthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant male-lethal developmental disorder characterized by unilateral or bilateral microphthalmia and linear skin defects of the face and neck. Additional features affecting the eyes, heart, brain or genitourinary system can occur, corroborating the intra- and interfamilial phenotypic variability. The majority of patients display monosomy of the Xp22.2 region, where the holocytochrome c-type synthase (HCCS) gene is located. CASE PRESENTATION: We describe a 15-year-old-female affected by MLS syndrome and autism spectrum disorder (ASD). ASD has not previously been reported as a component of MLS. Our patient shows a large deletion of 12.9 Mb, involving Xp22.32-p22.2, which encompasses both the HCCS gene and autism X-linked genes. CONCLUSION: Thus, patients with a large deletion at Xp22 might display MLS with ASD, due to the deletion of contiguous genes, although the highly variable phenotype of these patients could be influenced by several genetic mechanisms, including different tissue-specific X-inactivation and somatic mosaicism.

Identifying Autistic-Like Symptoms in Children with ADHD: A Comparative Study Using ADOS-2.

Purpose: Recent literature has focused attention on the presence of autistic-like symptoms in children with Attention Deficit/Hyperactivity Disorder (ADHD), who often exhibit social difficulties, posing challenges for a distinct clinical diagnosis. The current study aimed to identify the specific pattern of autistic symptoms in subjects with ADHD or Autistic Spectrum Disorder (ASD), examining similarities or differences at both the domain and individual item levels. Patients and Methods: In this study, we enrolled 43 school-age children divided into the following: the ADHD group (n=25) consisted of children initially referred for ASD symptoms but subsequently clinically diagnosed with ADHD, and the ASD group consisted of 18 children with ASD. We used the Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2), to examine relative differences in the presence of symptoms such as deficits in communication and social interaction, and restricted and repetitive behaviors in these two groups. Comparison between groups was conducted to explore differences in IQ, age, ADOS-2 domains, and externalizing and internalizing problems among the groups. Results: We found significant differences between the groups when comparing summary scores of ADOS-2 domains (Social Affect, Restricted and Repetitive Behavior, and Total Score). Interestingly, at the individual item level, the ADHD group exhibited a similar level of atypical behaviors compared to the ASD group in two items related to the social-communication area: "Pointing" and "Gestures". Additionally, the frequencies of "Stereotyped/idiosyncratic words or phrases", "Mannerisms", and "Repetitive interests and behaviors" also showed similarities between groups. Conclusion: These findings indicate the importance of exploring and developing potential transdiagnostic domains that could be targeted for treatments specifically designed for children with ADHD.

Beyond Diagnosis: Preliminary Study of Impact on Children and Parents in Neurodevelopmental Disorders and Juvenile Idiopathic Arthritis-Associated Uveitis.

Chronic diseases are a growing problem for global health due to the large number of people they involve, the repercussions they have on the mental and physical well-being of those affected, and the costs to society. Particularly, chronic illnesses of childhood have important psychological implications, not only for affected children but also for their parents. Among these pathologies, neurodevelopmental disorders (NDDs) and uveitis associated with juvenile idiopathic arthritis (JIA-U) may affect mental and physical health, emotions, memory, learning, and socializing. This study evaluates the psychological and behavioral/emotional impact of NDDs and JIA-U on children and parents. Specifically, 30 children with active JIA-U and 30 children with NDDs and their parents completed the Child Behavior Checklist (CBCL) and Parent Stress Index-Short Form (PSI) questionnaires. Children with NDDs have statistically significant differences in all the emotional and behavioral variables compared to JIA-U children, and parents of children with NDDs experience an increased stress load compared to parents of children with JIA-U. This study emphasizes the wide range of emotional and behavioral challenges that parents face with NDDs. This study emphasizes that parents of children with NDDs not only experience higher levels of stress compared to parents of normally developing children but also experience higher levels of stress compared to parents of children with potentially debilitating chronic diseases such as JIA-U.

Psychopathology in children and adolescents with primary headaches: categorical and dimensional approaches.

BACKGROUND: Recurrent headache is common in childhood, but there is not a great amount of data on the associations between headaches and psychopathology in children. OBJECTIVE: The aim of this study is to examine the relationships between primary headaches and psychopathology in children, using both the categorical and dimensional assessment. METHODS: The sample consisted of 70 patients with primary headache compared to a matched sample of 50 healthy children. Psychiatric comorbidity was defined according to the diagnostic criteria of the Diagnostic and Statistical Manual of Disorders. Child psychopathology outcomes were assessed using child- and parent-reported standardized instruments. RESULTS: Internalizing and externalizing problems were significantly represented among children with headaches compared to the control group, respectively 63% and 27%, without significant differences between migraine and tension-type headache children. Moreover, a total of 26% of the children with a headache reported psychiatric comorbidity such as anxiety and mood disorders. CONCLUSION: The dimensional approach improves accuracy in the recognition of emotional and behavioral problems compared to the categorical approach; however, the use of both of these approaches could be useful for clinical practice, treatment and research.

Neuropsychopathological comorbidities in learning disorders.

BACKGROUND: Learning Disorders (LD) are complex diseases that affect about 2-10% of the school-age population. We performed neuropsychological and psychopathological evaluation, in order to investigate comorbidity in children with LD. METHODS: Our sample consisted of 448 patients from 7 to 16 years of age with a diagnosis of LD, divided in two subgroups: Specific Learning Disorders (SLD), including reading, writing, mathematics disorders, and Learning Disorders Not Otherwise Specified (LD NOS). RESULTS: Comorbidity with neuropsychopathologies was found in 62.2% of the total sample. In the LSD subgroup, ADHD was present in 33%, Anxiety Disorder in 28.8%, Developmental Coordination Disorder in 17.8%, Language Disorder in 11% and Mood Disorder in 9.4% of patients. In LD NOS subgroup, Language Disorder was present in 28.6%, Developmental Coordination Disorder in 27.5%, ADHD in 25.4%, Anxiety Disorder in 16.4%, Mood Disorder in 2.1% of patients. A statistically significant presence was respectively found for Language and Developmental Coordination Disorder comorbidity in LD NOS and for ADHD, mood and anxiety disorder comorbidity in SLD subgroup. CONCLUSIONS: The different findings emerging in this study suggested to promote further investigations to better define the difference between SLD and LD NOS, in order to improve specific interventions to reduce the long range consequences.

Long-term follow-up of neurological manifestations in a boy with incontinentia pigmenti.

Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis confined to females. It is usually lethal in males. However, the survival of some males has been reported in literature. We describe a long follow-up case of a 12-year-old male with IP and a normal karyotype but a genomic deletion of the NEMO gene in the Xq28 position in the form of somatic mosaicism. The patient showed severe ophthalmic abnormalities and neurological manifestations characterised by very mild cerebellar ataxia and a history of epilepsy that was severe at the beginning with West syndrome, become moderate overtime and is now resolved. Despite these neurological manifestations, probably related to the presence of at least some mutated cells in his brain, the long-term follow-up in this patient demonstrated good neurological and cognitive outcome.

[Diagnostic and therapeutic potential of the Elementary Pragmatic Model].

This article describes the major results obtained from studies with the Elementary Pragmatic Model (EPM) composed by 16 Functions (F). The model has undergone experimentation using the Synthesis and Scission Sentences procedure (SISCI test) described in this paper. In functioning individuals there is a prevailing tendency to "maintain their world" (F3) and to decrease the "empty mind" (F0) and "chaos or impossible to select" (F15). On the contrary, individuals with psychiatric disorders, compared with functioning show a decreased degree of "maintaining their world" (F3), a higher degree of "empty mind" (F0) and of "chaos or impossible to select" (F15). The results are useful for both development of creativity in problem solving in business and for improve treatments to psychiatric disorders.

A Preliminary Longitudinal Study on Infant-Directed Speech (IDS) Components in the First Year of Life.

Infant-directed speech (IDS) is an essential factor of mother-infant interaction and facilitates early language processing and word learning during dyadic interactions. This study aimed to longitudinally investigate emotional and prosodic components of IDS in the first year of life by analyzing children's responses to the different prosodic trends that mothers use during the observation of mother-child interactions. Seventeen mothers and infants were recruited for this study during their first hospitalization. The study involved observing communication changes in face-to-face interactions between the mother and child at three, six, and nine months after the child's birth. We analyzed the relationship between gaze direction, smiling, speech speed, and clarity. The results showed that the IDS differs in production when compared to the age of the child; at only nine months, there is high intensity. The same is evident from the results related to the elocution velocity. The verbal sensitivity of the mother and the ability to tune in to the affective states of the child, especially at nine months, can predict the child's understanding of future language.

Association between feeding/mealtime behavior problems and internalizing/externalizing problems in autism spectrum disorder, other neurodevelopmental disorders and typically developing children.

BACKGROUND: The aim of current study was to examine the nature and prevalence of feeding problems and mealtime behavior problems in children with autism spectrum disorder (ASD) comparing to children with other neurodevelopmental disorders (NNDs) and TD children. We also investigated the impact of intelligence quotient (IQ) and/or emotional and behavioral problems on feeding and mealtime behavior problems. METHODS: Participants completed the following tests: Social Communication Questionnaire (SCQ), Child Behavior Checklist (CBCL), Brief Autism Mealtime Behavior Inventory (BAMBI) and Behavioral Pediatric Feeding Assessment Scale (BPFAS). RESULTS: Children with ASD showed more feeding and mealtime behavior problems including food refusal (P<0.001, P<0.001) and limited variety of foods (P=0.014; P=0.018) compared with NDDs and TD children. ASD group showed more problems in mealtime behavior (P=0.034) and parent behaviors (P=0.028) compared to TD group. Internalizing (P=0.003) and externalizing (P=0.008) problems were positively related to parent frustration during mealtime in ASD group. CONCLUSIONS: These results suggest that routine screening for feeding and mealtime behavior problems among children with ASD is necessary to prevent dietary inadequacies that may be associated with eating habits.

Impact of sleep disorders on behavioral issues in preschoolers with autism spectrum disorder.

Background: Sleep disorders are one of the most common problems in children with Autism Spectrum Disorder (ASD). However, they often tend to be underdiagnosed and incorrectly treated in clinical practice. This study aims to identify sleep disorders in preschool children with ASD and to explore their relationship with the core symptoms of autism, the child's developmental and cognitive level as well as the psychiatric comorbidities. Methods: We recruited 163 preschool children with a diagnosis of ASD. The Children's Sleep Habits Questionnaire (CSHQ) assessed sleep conditions. Multiple standardized tests were used to evaluate intellectual abilities, the presence of repetitive behaviors (through the Repetitive Behavior Scale-Revised), as well as the emotional-behavioral problems and the psychiatric comorbidities (through the Child Behavior Checklist -CBCL 11/2-5). Results: The results showed that poor disorders had consistently higher scores in all areas assessed by the CSHQ and on the CBCL across all domains. The correlational analysis showed that severe sleep disorders were associated with higher scores in internalizing, externalizing, and total problems at the CBCL syndromic scales, and in all DSM-oriented CBCL subscales. Moreover, we found that the association between sleep disorders and restricted and repetitive behaviors (RRBs) is explained by the anxiety-related symptoms. Conclusion: Based on these findings, the study recommends that screening for sleep problems followed by early intervention should constitute a routine part of clinical practice for children with ASD.

Adverse Childhood Experiences and Mental Health among Students Seeking Psychological Counseling Services.

Recent years have seen a marked rise in the number of students accessing University Psychological Counseling (UPC) services, and their concerns have been increasingly severe. This study aimed to examine the impact of cumulative adverse childhood experiences (ACEs) on mental health in students who had approached counseling services (N = 121) and students who had no experience with counseling services (N = 255). Participants completed an anonymous online self-report questionnaire measuring exposure to adverse childhood experiences (ACE-Q), psychological distress (General Anxiety Disorder-7 (GAD-7) and Patient Health Questionnaire-9 (PHQ-9), personality traits (PID-5), and coping strategies. We found that students who approached UPC services scored higher on cumulative ACEs than the non-counseling group. While ACE-Q score was a direct positive predictor of PHQ-9 (p < 0.001), it did not predict GAD-7. Moreover, the results supported the existence of a mediation effect of avoidance coping, detachment, and psychoticism on the indirect effects of ACE-Q score on PHQ-9 or GAD-7. These results underlined the importance of screening for ACEs in a UPC setting because it can help identify students at higher risk for developing mental and physical health problems and provide them with early interventions and support.

Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication.

Genomic copy number imbalances are being increasingly identified as an important cause of intellectual disability (ID) and behavioral disturbances. This article reports the clinical features, and long term follow-up of a patient with neurodevelopmental, cognitive, and behavioral abnormalities associated with facial dysmorphism, CNS anomalies, and epilepsy. The karyotype was normal; array CGH testing revealed a de novo cryptic aberration with a terminal 8p23.2p23.3 deletion, and a concomitant 12p13.31p13.33 duplication, of 6.86 Mb, and 8.49 Mb, respectively. Our patient clinical features are compared to those of partial 8 monosomy and/or partial 12p trisomy cases reported in literature, in order to establish genotype-phenotype correlations. For some features, for example, electroencephalogram (EEG) abnormalities and epilepsy, both abnormalities seem to make a contribution, while most phenotypic traits have been assigned to 8p monosomy or to 12p trisomy, contributing to a tentative phenotype map for partial monosomy of the short arm of chromosome 8, and trisomy of the short arm of chromosome 12.

Ophthalmoplegic migraine: migraine or oculomotor neuropathy?

BACKGROUND: Ophthalmoplegic migraine (OM) is a rare condition characterized by the association of headaches and an oculomotor nerve palsy. The third cranial nerve is commonly involved in recurrent attacks, whereas involvement of the sixth and fourth nerves is uncommon. It is still debated whether an uncontrolled migraine or an oculomotor neuropathy may be the primary cause of ophthalmoplegic migraine. CASES: We report two patients affected by OM with normal magnetic resonance imaging findings and a history of uncontrolled migraine before an attack of OM. CONCLUSION: The cases reported allow us to hypothesize that OM may be considered a form of migraine rather than a cranial neuralgia. It is possible that different factors such as inflammatory or structural factors, may represent a vulnerability of the nerve during a severe migraine attack causing ophthalmoplegia.

Guillain-Barré-like syndrome in a child with lead poisoning.

Lead poisoning is a medical condition caused by increased levels of the heavy metal lead in the body, generally resulting from environmental exposure. Lead poisoning can cause a variety of symptoms which vary depending on the individual and the duration of lead exposure; lead poisoning is more noxious to children than adults, because it can damage the brain and nerve development of children.We report a case of lead poisoning in a 5-year-old girl caused by accidental ingestion of a metal ring. Simultaneously, the child showed anemia, encephalopathy, and peripheral neuropathy with albuminocytological dissociation mimicking Guillain-Barré syndrome.This case suggests that anemia with signs of peripheral and central nervous system damage could be considered as a possible manifestation of lead poisoning in children.