1. Akram B, Batool M, Rafi Z, Akram A. {{Prevalence and Predictors of Non-Suicidal Self-Injury among Children with Autism Spectrum Disorder}}. {Pak J Med Sci}. 2017; 33(5): 1225-9.
Objectives: To find the prevalence as well as to identify the predictors as protective and risk factors of Non-Suicidal Self-Injury (NSSI) among children with autism spectrum disorder (ASD). Methods: In this analytical cross sectional survey 83 children with ASD age range from 8 to 18 years were selected through convenient sampling technique from five special schools of Lahore city. The Urdu form of a standardized tool was used to assess NSSI. Results: Statistical analysis indicated overall point prevalence of NSSI was 33%. Moreover banging/self-beating (47%), scratching (38), pinching (35%), picking scabs (33%), self-biting (32%), pulling hair (30%) and rubbing skin (19%) emerged as common forms of challenging behavior. Further regression analysis showed that age B(1.68*, P<.05), gender B(3.72, P<.001) and severity level of ASD B(1.85***, p<.0001) as risk factors/positive predictors of NSSI. However early intervention (-0.66***, P<.0001) and involvement of parents in counselling (-2.66*, P<.05) emerged as protective factors/negative predictors of NSSI among children with ASD. Conclusion: Non-suicidal self-injury is a serious challenge among children with ASD. Early intervention, counselling and parental involvement in managing the children with ASD will not only prevent but reduce the challenging behaviors. Lien vers le texte intégral (Open Access ou abonnement)
2. Al-Sehaibany FS. {{Occurrence of oral habits among preschool children with Autism Spectrum Disorder}}. {Pak J Med Sci}. 2017; 33(5): 1156-60.
Objective: To determine occurrence of oral habits among Saudi preschool children with autism spectrum disorder (ASD) and compare it with healthy preschool children. Methods: This study was conducted over a 14-months period in Riyadh, Saudi Arabia. The sample consisted of two groups; a study group (SG) of 150 ASD children, and a control group (CG) of age- and gender-matched 150 healthy children. The parents of the children in both the groups were administered a questionnaire that included questions about the children’s demographic information and previous or persistent oral habits. Results: The prevalence of oral habits was higher (87.3%) among the SG children as compared to CG children (49.3%). The most prevalent oral habit among the SG was bruxism (n = 82; 54.7%), followed by object biting (n = 67; 44.7%) and mouth breathing (n = 40; 26.7 %). Among the CG; the most prevalent oral habit was mouth breathing (n = 40; 26.7%) followed by nail biting (n=18; 12%) and object biting (n = 7; 4.7%). The prevalence of bruxism, object biting, thumb sucking and tongue biting was significantly (p<0.05) higher in the SG than the CG. Conclusions: The prevalence of oral habits was higher in the ASD group children than the healthy children. Lien vers le texte intégral (Open Access ou abonnement)
3. Boone KM, Brown AK, Keim SA. {{Screening Accuracy of the Brief Infant Toddler Social-Emotional Assessment to Identify Autism Spectrum Disorder in Toddlers Born at Less Than 30 Weeks’ Gestation}}. {Child Psychiatry Hum Dev}. 2017.
Despite the higher prevalence of autism spectrum disorder (ASD) in children born preterm, valid screening tools for use in preterm populations are lacking. We aimed to evaluate the screening accuracy of the Brief Infant Toddler Social-Emotional Assessment (BITSEA) and to compare it to the Pervasive Developmental Disorders Screening Test-II, Stage 2, Developmental Clinic Screener (PDDST-II-DCS) in identifying ASD diagnosis in toddlers born at < 30 weeks' gestation. Caregivers (94% mothers) of 555 children completed questionnaires (BITSEA, PDDST-II-DCS, socio-demographics) when the children (58% male) were 18-36 months. Medical charts were abstracted 3.5 years later and showed that 4% (n = 24) of children had an ASD diagnosis. BITSEA competence (sensitivity = .74; specificity = .76) and ASD (sensitivity = .70; specificity = .73) subscales demonstrated better accuracy in identifying ASD compared to the recommended PDDST-II-DCS cut-score (sensitivity = .73; specificity = .64), specifically as it related to specificity. Additional studies are needed in other preterm populations to replicate these findings. Lien vers le texte intégral (Open Access ou abonnement)
4. Kadam A, Pandit A, Patole S. {{Fragile X Syndrome with Congenital Diaphragmatic Hernia}}. {J Trop Pediatr}. 2017.
The authors present a case of Fragile X syndrome (FXS) in siblings from an Indian family with no developmental delay in previous generations. The boy presented with developmental delay, autistic features and defiant behaviours that raised clinical suspicion. He also had congenital diaphragmatic hernia (CDH). Social anxiety and difficulty in making friends were the subtle features in his sister with dull normal intelligence. FXS was confirmed by clinical features and DNA testing. Intervention was initiated for both the siblings. Screening siblings in FXS is important. CDH can be associated with FXS.
Lien vers le texte intégral (Open Access ou abonnement)
5. Rejeb I, Jilani H, Elaribi Y, Hizem S, Hila L, Zillahrdt JL, Chelly J, Benjemaa L. {{First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations}}. {BMC Med Genet}. 2017; 18(1): 134.
BACKGROUND: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants. The integrity of the Golgi apparatus requires the presence of the peripheral membrane protein VPS13B that have an essential function in intracellular protein transport and vesicle-mediated sorting. CASE PRESENTATION: In this study, we performed whole exome sequencing (WES) in a Tunisian family with two young cases having developmental delay, hypotonia, autism spectrum disorder, ptosis and thick hair and eyebrows. The proposita presented also pigmentory retinopathy. Compound heterozygous mutation in VPS13B gene was detected by WES. This mutation inherited from healthy heterozygous parents, supports an unpredictable clinical diagnosis of Cohen Syndrome. The proband’s phenotype is explained by the presence of compound heterozygous mutations in the VPS13B gene. This finding refined the understanding of genotype-phenotype correlation. CONCLUSIONS: This is the first report of a Tunisian family with Cohen syndrome mutated in the VPS13B gene.
Lien vers le texte intégral (Open Access ou abonnement)
6. Rescorla LA, Ghassabian A, Ivanova MY, Jaddoe VW, Verhulst FC, Tiemeier H. {{Structure, longitudinal invariance, and stability of the Child Behavior Checklist 1(1/2)-5’s Diagnostic and Statistical Manual of Mental Disorders-Autism Spectrum Disorder scale: Findings from Generation R (Rotterdam)}}. {Autism}. 2017: 1362361317736201.
Although the Child Behavior Checklist 1(1/2)-5’s 12-item Diagnostic and Statistical Manual of Mental Disorders-Autism Spectrum Problems Scale (formerly called Pervasive Developmental Problems scale) has been used in several studies as an autism spectrum disorder screener, the base rate and stability of its items and its measurement model have not been previously studied. We therefore examined the structure, longitudinal invariance, and stability of the Child Behavior Checklist 1(1/2)-5’s Diagnostic and Statistical Manual of Mental Disorders-Autism Spectrum Problems Scale in the diverse Generation R (Rotterdam) sample based on mothers’ ratings at 18 months ( n = 4695), 3 years ( n = 4571), and 5 years ( n = 5752). Five items that seemed especially characteristic of autism spectrum disorder had low base rates at all three ages. The rank order of base rates for the 12 items was highly correlated over time ( Qs 0.86), but the longitudinal stability of individual items was modest (phi coefficients = 0.15-0.34). Confirmatory factor analyses indicated that the autism spectrum disorder scale model manifested configural, metric, and scalar longitudinal invariance over the time period from 18 months to 5 years, with large factor loadings. Correlations over time for observed autism spectrum disorder scale scores (0.25-0.50) were generally lower than the correlations across time of the latent factors (0.45-0.68). Results indicated significant associations of the autism spectrum disorder scale with later autism spectrum disorder diagnoses.
Lien vers le texte intégral (Open Access ou abonnement)
7. Romero-Gonzalez M, Chandler S, Simonoff E. {{The relationship of parental expressed emotion to co-occurring psychopathology in individuals with autism spectrum disorder: A systematic review}}. {Res Dev Disabil}. 2017; 72: 152-65.
Expressed emotion is a construct of the affective relationship between two people, with domains measuring criticism, hostility, warmth, relationship and emotional over-involvement. This review focuses on studies of Expressed Emotion in families of individuals with autism spectrum disorder and its association with co-occurring psychiatric disorders. A systematic search used the Psych-Info and Medline databases to identify articles available at or before September 2016. Eleven studies met the inclusion criteria. The included studies suggest that high levels of expressed emotion, including criticism, are associated with behavioural problems. However, the relationship between expressed emotion and emotional problems is presently unclear because findings were mixed. Also, there is presently little evidence regarding the impact of other components of expressed emotion on co-occurring disorders.
Lien vers le texte intégral (Open Access ou abonnement)
8. Sabuncuoglu O. {{Towards a further understanding of prenatal thyroid theory of homosexuality: Autoimmune thyroiditis, polycystic ovary syndrome, autism and low birth weight}}. {Ment Illn}. 2017; 9(2): 7325.
Lien vers le texte intégral (Open Access ou abonnement)
9. Sibeoni J, Chambon L, Pommepuy N, Rappaport C, Revah-Levy A. {{Psychiatric care of children with autism spectrum disorder – What do their siblings think about it? A qualitative study}}. {Autism}. 2017: 1362361317728435.
The expectations and role of families in the care of children with autism spectrum disorder are increasingly important. Nonetheless, no study has thus far explored the perspectives of siblings about the care received by a brother or sister with this disorder. The objective of this study was to fill this gap in the literature. This multicentre qualitative study took place in France, where we conducted semi-structured interviews with adolescents who were older siblings of children receiving care in a day hospital for an autism spectrum disorder. Data collection by purposive sampling continued until we reached ‘theoretical sufficiency’, and data analysis was thematic. The study included 20 participants: 13 sisters and 7 brothers. Four themes emerged in the data analysis: (1) the treatment targets, (2) the treatment’s perceived effectiveness, (3) the complex questions it raises and (4) the role of intrafamily relationships. Our results allowed us to report original aspects of the experience of siblings, in particular, their confusion with regard to the treatment, their difficulty in separating themselves from their parents’ discourse and their assertion of their role as caregivers for their younger brothers and sisters.
Lien vers le texte intégral (Open Access ou abonnement)
10. Sokhadze EM, Lamina EV, Casanova EL, Kelly DP, Opris I, Khachidze I, Casanova MF. {{Atypical Processing of Novel Distracters in a Visual Oddball Task in Autism Spectrum Disorder}}. {Behav Sci (Basel)}. 2017; 7(4).
Several studies have shown that children with autism spectrum disorder (ASD) show abnormalities in P3b to targets in standard oddball tasks. The present study employed a three-stimulus visual oddball task with novel distracters that analyzed event-related potentials (ERP) to both target and non-target items at frontal and parietal sites. The task tested the hypothesis that children with autism are abnormally orienting attention to distracters probably due to impaired habituation to novelty. We predicted a lower selectivity in early ERPs to target, frequent non-target, and rare distracters. We also expected delayed late ERPs in autism. The study enrolled 32 ASD and 24 typically developing (TD) children. Reaction time (RT) and accuracy were analyzed as behavioral measures, while ERPs were recorded with a dense-array EEG system. Children with ASD showed higher error rate without normative post-error RT slowing and had lower error-related negativity. Parietal P1, frontal N1, as well as P3a and P3b components were higher to novels in ASD. Augmented exogenous ERPs suggest low selectivity in pre-processing of stimuli resulting in their excessive processing at later stages. The results suggest an impaired habituation to unattended stimuli that incurs a high load at the later stages of perceptual and cognitive processing and response selection when novel distracter stimuli are differentiated from targets.
Lien vers le texte intégral (Open Access ou abonnement)
11. van Rooij D, Anagnostou E, Arango C, Auzias G, Behrmann M, Busatto GF, Calderoni S, Daly E, Deruelle C, Di Martino A, Dinstein I, Duran FLS, Durston S, Ecker C, Fair D, Fedor J, Fitzgerald J, Freitag CM, Gallagher L, Gori I, Haar S, Hoekstra L, Jahanshad N, Jalbrzikowski M, Janssen J, Lerch J, Luna B, Martinho MM, McGrath J, Muratori F, Murphy CM, Murphy DGM, O’Hearn K, Oranje B, Parellada M, Retico A, Rossa P, Rubia K, Shook D, Taylor M, Thompson PM, Tosetti M, Wallace GL, Zhou F, Buitelaar JK. {{Cortical and Subcortical Brain Morphometry Differences Between Patients With Autism Spectrum Disorder and Healthy Individuals Across the Lifespan: Results From the ENIGMA ASD Working Group}}. {Am J Psychiatry}. 2017: appiajp201717010100.
OBJECTIVE: Neuroimaging studies show structural differences in both cortical and subcortical brain regions in children and adults with autism spectrum disorder (ASD) compared with healthy subjects. Findings are inconsistent, however, and it is unclear how differences develop across the lifespan. The authors investigated brain morphometry differences between individuals with ASD and healthy subjects, cross-sectionally across the lifespan, in a large multinational sample from the Enhancing Neuroimaging Genetics Through Meta-Analysis (ENIGMA) ASD working group. METHOD: The sample comprised 1,571 patients with ASD and 1,651 healthy control subjects (age range, 2-64 years) from 49 participating sites. MRI scans were preprocessed at individual sites with a harmonized protocol based on a validated automated-segmentation software program. Mega-analyses were used to test for case-control differences in subcortical volumes, cortical thickness, and surface area. Development of brain morphometry over the lifespan was modeled using a fractional polynomial approach. RESULTS: The case-control mega-analysis demonstrated that ASD was associated with smaller subcortical volumes of the pallidum, putamen, amygdala, and nucleus accumbens (effect sizes [Cohen’s d], 0.13 to -0.13), as well as increased cortical thickness in the frontal cortex and decreased thickness in the temporal cortex (effect sizes, -0.21 to 0.20). Analyses of age effects indicate that the development of cortical thickness is altered in ASD, with the largest differences occurring around adolescence. No age-by-ASD interactions were observed in the subcortical partitions. CONCLUSIONS: The ENIGMA ASD working group provides the largest study of brain morphometry differences in ASD to date, using a well-established, validated, publicly available analysis pipeline. ASD patients showed altered morphometry in the cognitive and affective parts of the striatum, frontal cortex, and temporal cortex. Complex developmental trajectories were observed for the different regions, with a developmental peak around adolescence. These findings suggest an interplay in the abnormal development of the striatal, frontal, and temporal regions in ASD across the lifespan.
Lien vers le texte intégral (Open Access ou abonnement)
12. Zalfa F, Panasiti V, Carotti S, Zingariello M, Perrone G, Sancillo L, Pacini L, Luciani F, Roberti V, D’Amico S, Coppola R, Abate SO, Rana RA, De Luca A, Fiers M, Melocchi V, Bianchi F, Farace MG, Achsel T, Marine JC, Morini S, Bagni C. {{The fragile X mental retardation protein regulates tumor invasiveness-related pathways in melanoma cells}}. {Cell Death Dis}. 2017; 8(11): e3169.
The fragile X mental retardation protein (FMRP) is lacking or mutated in patients with the fragile X syndrome (FXS), the most frequent form of inherited intellectual disability. FMRP affects metastasis formation in a mouse model for breast cancer. Here we show that FMRP is overexpressed in human melanoma with high Breslow thickness and high Clark level. Furthermore, meta-analysis of the TCGA melanoma data revealed that high levels of FMRP expression correlate significantly with metastatic tumor tissues, risk of relapsing and disease-free survival. Reduction of FMRP in metastatic melanoma cell lines impinges on cell migration, invasion and adhesion. Next-generation sequencing in human melanoma cells revealed that FMRP regulates a large number of mRNAs involved in relevant processes of melanoma progression. Our findings suggest an association between FMRP levels and the invasive phenotype in melanoma and might open new avenues towards the discovery of novel therapeutic targets.
