Quality of live among parents of children with autism spectrum disorders in Tunisia.

BACKGROUND: Studies on parents of children with autistic spectrum disorders' (ASD) quality of life (QOL) agree on its alteration and seek to identify risk factors in order to target interventions. AIMS: To study the QOL of a Tunisian population of parents of children with ASD and to look for risk factors specific to the Tunisian population. METHODS: We conducted a cross-sectional descriptive study of 50 parents of 50 children who met the DSM V criteria for autism spectrum disorder. A pre-established record was used to collect the biographical and clinical data. The severity of autism was determined using CARS. The SF-36, validated in Tunisia, made it possible to assess the QOL of the parents. RESULTS: The proportion of parents with impaired QOL was 64%. The average mental score was lower than the average physical summary score. Aggressiveness was the predominant factor that significantly altered parents' QOL at the total SF-36 score (p=0,03) and 5-dimensional levels (0.006

Sensitivity to pain in autistic spectrum disorders: Its links with self-gressivity.

OBJECTIVES: To investigate the link between pain sensitivity in autism spectrum disorders (ASD) and self-aggressive behavior. METHODS: we performed a cross-sectional study which involved 50 children fulfilling DSM-V criteria for ASD; confirmed by the Autism Diagnostic Interview Revised. The severity of autism was determined using the Childhood Autism Rating Scale (CARS).The psycho-educational profile (PEP-R) was used to assess the age of development and perception.  Sensitivity to pain was assessed with item IX of the CARS. Self-aggressive behavior was assessed by the Behavior Problems Inventory. RESULTS: Pain sensitivity was lowered in 40% and elevated in 4% of children. In the univariate analysis, no statistically significant association was found between normal sensitivity or hyper sensitivity to pain and the presence of auto-aggressiveness. A significant association was found between the presence of hypo-sensitivity to pain and the following variables: auto-aggression (p = 0.007, OR = 5.8, 95% CI = 1.5-21) , frequency of self-aggression (p = 0.001), intensity of self-aggression (p = 0.05), location of auto-aggressiveness at head and (P = 0.007, OR = 7.6, 95% CI = 1.8-14), higher score at CARS, and lower perception score at PEP-R (p = 0.012). Multiple-varied analysis identified risk factors for hypo-sensitivity to pain: lower perceptual score (p = 0.003, adjusted OR = 4.3, 95% CI = 1.9-54) and location of self-aggression at head and hands (p = 0.001, adjusted OR = 1.09, 95% CI = 1.02-1.09). CONCLUSION: It would be interesting to develop tools allowing a fine and precise evaluation of the painful sensation.

Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome.

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre and post natal overgrowth, facial malformations, and visceral, skeletal, and neurological anomalies. The physical characteristics of SGBS have been well documented; however there is a lack of description regarding the behavioral phenotype. We report the case of a 6-year-old boy, with confirmed deletion of 6-8 exons of the glypican-3 gene (GPC3) who presents three distinctive findings: the persistence of the craniopharyngeal canal, an immune-allergic specificity, and a scarcely behavioral phenotype consisting in the association of Austim Spectrum Disorder with accompanying mild intellectual disability and language impairments. He also fulfilled the criteria of Attention Deficit Hyperactivity Disorder and Oppositional Defiant Disorder according to DSM 5 criteria. The specificities of the case are discussed in the light of recent pathophysiological data.

Theory of mind in adolescents with early-onset schizophrenia: correlations with clinical assessment and executive functions.

OBJECTIVE: We examined Theory of Mind (ToM) abilities in adolescents with early-onset schizophrenia (EOS) and their correlation with clinical findings and Executive Functions (EF). METHODS: The ToM abilities of 12 adolescents with EOS were compared with those of healthy participants matched in age and educational level. The Moving Shapes Paradigm was used to explore ToM abilities in three modalities: random movement, goal-directed movement and ToM - scored on the dimensions of intentionality, appropriateness and length of each answer. EF was tested using Davidson's Battery and the clinical psychopathology with the Positive and Negative Syndrome Scale (PANSS). RESULTS: Adolescents with EOS were significantly more impaired than controls in the three dimensions evaluated for the goal-directed and ToM modalities. Regarding the random movement modality, the only difference was in appropriateness (p<0.01). No correlation with age or level of education was evident for ToM skills. Total PANSS score was negatively correlated with appropriateness score for the goal-directed (p=0.02) and ToM modalities (p=0.01). No correlation existed between performance in the ToM Animated Tasks and positive, negative or disorganisation PANSS subscores. No correlations were found among the three scores in the Moving Shapes Paradigm and any measures of the accuracy of the three tasks assessing EF. CONCLUSION: Our results confirm previous findings of ToM deficits in adult individuals with schizophrenia and attest the severity of these deficits in patients with EOS.

Parental satisfaction of an assessment unit for autistic spectrum disorders.

Background - Based on the recognized principles of assessment of autistic disorders, the child and adolescent psychiatry department in Razi Hospital developed an assessment unit with diagnostic as well as therapeutic roles. The aim of this work was to examine its functioning and to analyze the parents' perceptions about the unit services. Methods - We gathered the parental satisfaction about the unit by the means of a hetero-questionnaire. Results - Fifty-two parents of children evaluated within the unit were included.  Patients had received the diagnosis of Autistic Disorder, Pervasive Developmental Disorders Not Otherwise Specified and Asperger Syndrome in accordance with DSM IV criteria, and than that of Autism Spectrum Disorder after DSM 5 publication. The overall satisfaction rate was 63%. Most parents (84.6%) rated the Psycho Educative Profile examination positively, 75% appreciated the neurological examination and the final report steps, 55.8% appreciated step of the Autism Diagnostic Interview revised and 42.3% the genetic exploration. 67% of the parents reported an improvement of their child following the evaluation. This improvement was attributed to the unit in 57.7% of cases. Parents whose children did not have associated disorders such as intellectual disability (p = 0.02), aggressive behavior (p = 0.04), affective disorder (p = 0.01) and sleep-related disorders (p = 0.03) were the most satisfied. Parents of children with epilepsy comorbidity were the least satisfied (p <10-3). 96% of parents suggested repeating the assessment once a year. Conclusion - Assessment units are based on international recommendations. However, it would be interesting to adapt assessments and orientation to the parents' expectations.

[Somatic manifestations among depressed children: the case of complains and conversion symptoms]. / Manifestations d'allure somatique chez l'enfant déprimé: le cas des plaintes somatiques et des conversions.

BACKGROUND: If all authors agree on the presence of fundamental changes in mood, as the basis of the diagnosis of depression, little importance is accorded to other symptoms that can mislead the diagnosis: in particular, age and cultural influence on depressive symptoms. AIM: Our work aims to describe and assess the frequency of somatic complaints and symptoms of conversion in Tunisian children and adolescents followed for depressive disorders, and to compare, through a study of literature to populations from different cultures. METHODS: This work consisted in a retrospective review of children who consulted the Department of Child Psychiatry between 2008 and 2011 and in whom the diagnosis of depressive disorders was retained according to DSM IV criteria. Were searched all the conversion symptoms corresponding to the DSM IV diagnoses of conversion and dissociative disorders, as well as all the somatic complaints reported. Children with organic were excluded in order not to confuse the pain secondary to these disorders from those associated with depression. Also, children with mental retardation, moderate, severe or profound were not included because their difficulties of expression can alter the semiological assessment. RESULTS: 119 children and adolescents aged 6 to19 years were included in the study. The mean age of the population was 11.6 years. Somatic complains were present in 37% of cases. Headaches were mostly represented (27.7%), followed by abdominal pain (14.3%). The presence of somatic complaints was significantly correlated with the presence of a comorbid anxiety (p=0.035). Conversion symptoms were present in 22.7% of cases. They were significantly more frequent among girls (p=0.006) and in children whose father had a low level of education (p=0,013). Among the conversions, fainting were more common in girls (p=0.004), when the father's educational level was low (p=0.001), and when the geographical origin was rural (p=0.016). CONCLUSION: Conversion symptoms and somatic complaints are frequent in depressed children.

Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.

[This corrects the article DOI: 10.3389/fgene.2024.1384094.].

Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.

Hearing impairment (HI) is a prevalent neurosensory condition globally, impacting 5% of the population, with over 50% of congenital cases attributed to genetic etiologies. In Tunisia, HI underdiagnosis prevails, primarily due to limited access to comprehensive clinical tools, particularly for syndromic deafness (SD), characterized by clinical and genetic heterogeneity. This study aimed to uncover the SD spectrum through a 14-year investigation of a Tunisian cohort encompassing over 700 patients from four referral centers (2007-2021). Employing Sanger sequencing, Targeted Panel Gene Sequencing, and Whole Exome Sequencing, genetic analysis in 30 SD patients identified diagnoses such as Usher syndrome, Waardenburg syndrome, cranio-facial-hand-deafness syndrome, and H syndrome. This latter is a rare genodermatosis characterized by HI, hyperpigmentation, hypertrichosis, and systemic manifestations. A meta-analysis integrating our findings with existing data revealed that nearly 50% of Tunisian SD cases corresponded to rare inherited metabolic disorders. Distinguishing between non-syndromic and syndromic HI poses a challenge, where the age of onset and progression of features significantly impact accurate diagnoses. Despite advancements in local genetic characterization capabilities, certain ultra-rare forms of SD remain underdiagnosed. This research contributes critical insights to inform molecular diagnosis approaches for SD in Tunisia and the broader North-African region, thereby facilitating informed decision-making in clinical practice.

Cognitive deficits in children with autism spectrum disorders: Toward an integrative approach combining social and non-social cognition.

Autism spectrum disorder (ASD) is associated with neurocognitive impairment, including executive dysfunctioning and social cognition (SC) deficits. Cognitive remediation (CR) is a behavioral training-based intervention aiming to improve cognitive processes. Its first use in psychiatry interested patients with schizophrenia, in whom promising results have been shown. Integrated CR programs targeting both social and non-social cognition have demonstrated to be effective in improving both cognitive domains and functional outcomes. CR studies in children and adolescents with ASD are still new, those regarding CR approaches combining social and executive functioning remediation are scares. One study examining the efficacy of cognitive enhancement therapy (CET) for improving cognitive abilities in ADS adults, showed significant differential increases in neurocognitive function and large social-cognitive improvements. Therefore, taking into account the overlap between ASD and schizophrenia, and considering the close link between executive functions (EF) and SC, we suggest that integrative approach in ASD could result in better outcomes. The present perspective aimed to highlight cognitive remediation (CR) programs contributions in ASD (especially in children and adolescents), and to discuss the value of combining social and non-social programs.

Validation of the Tunisian Empathy Scale for Children (TESC) in General Population and Children With Autism Spectrum Disorder.

Background: Several empathy assessment tests have been proposed worldwide but none of them took into account cultural variations that seem to affect empathic manifestations. The aim of this study was to create and validate an empathy assessment questionnaire for school-aged Tunisian children entitled "Tunisian Empathy Scale for Children" (TESC). Methods: An evaluative cross-sectional study was conducted. The questionnaire was administered to parents of 197 neuro-typical children and 31 children with autism without associated intellectual deficits, aged between 7 and 12 years. Validation steps included: face validity, content validity, construct validity, and reliability study. A ROC curve analysis was used to investigate the diagnostic performance of the TESC. Results: Face validity was verified with an expert panel. Content validity was examined, and 11 items were removed as irrelevant or not assessable by parents. Exploratory factor analysis extracted four domains that explained 43% of the total variance. All these domains were significantly correlated with the total score (p < 10-3) and are, respectively: empathic behaviors, affective empathy, cognitive empathy, and a combined affective and cognitive domain. The reliability study showed a satisfactory level of internal consistency of the TESC, with a Cronbach's alpha of 0.615.The diagnostic performance of the TESC in relation to autism was evaluated by the ROC curve with a sensitivity and specificity of 84.3 and 62.1%, respectively, for a total score of 16. Conclusion: A 15-item questionnaire assessing empathy in a multidimensional and culturally adapted way was obtained. The psychometric qualities of the TESC were satisfactory.

Assessment of theory of mind in Tunisian verbal children with autism spectrum disorder.

The present study examined performance in Theory of Mind (ToM) in a group of 31 Arabic-speaking verbal children (7-12 years-old) with autism spectrum disorder (ASD), in comparison with neurotypical controls (NT) matched for age and for cognitive abilities. An innovative task in a digital format named "The Tunisian Social Situations Instrument" (TSSI) was used and allowed us to study four different subdomains of ToM: attribution of intention and epistemic ToM (cognitive ToM), affective ToM, and detection of faux pas (advanced ToM). Our study showed impairments in ToM in children with ASD, similar to those reported in the literature. Our findings additionally suggested that affective and advanced ToM, specifically the detection of faux pas, might be more challenging for ASD children than other components of ToM. Future studies with larger number of children may lead us to specify which subdomains are the most impaired in order to develop specific tools targeting these specific impairments.

Similarities and differences between tutoring and mentoring in medical education.

Supporting medical students involves two broad concepts that are often confused, namely tutoring and mentoring. These approaches, implemented in a heterogeneous way in medical schools, have been the topic of numerous publications. The objective of this update was therefore to define, then clarify, based on a literature review, the common characteristics and the differences between tutoring and mentoring in medical studies.

Validation of the Tunisian Test for Facial Emotions Recognition: Study in Children From 7 to 12 Years Old.

Background: Facial expressions transmit information about emotional state, facilitating communication and regulation in interpersonal relationships. Their acute recognition is essential in social adaptation and lacks among children suffering from autism spectrum disorders. The aim of our study was to validate the "Recognition of Facial Emotions: Tunisian Test for Children" among Tunisian children in order to assess facial emotion recognition in children with autism spectrum disorders (ASD). Methods: We conducted a cross-sectional study among neurotypical children from the general population. The final version of or test consisted of a static subtest of 114 photographs and a dynamic subtest of 36 videos expressing the six basic emotions (happiness, anger, sadness, disgust, fear and surprise), presented by actors of different ages and genders. The test items were coded according to Ekman's "Facial Action Coding System" method. The validation study focused on the validity of the content, the validity of the construct and the reliability. Results: We included 116 neurotypical children, from 7 to 12 years old. Our population was made up of 54 boys and 62 girls. The reliability's study showed good internal consistency for each subtest: the Cronbach coefficient was 0.88 for the static subtest and 0.85 for the dynamic subtest. The study of the internal structure through the exploratory factor analysis of the items of emotions and those of intensity showed that the distribution of the items in sub-domains was similar to their theoretical distribution. Age was significantly correlated to the mean of the overall score for both subtests (p < 10-3). Gender was no significantly correlated to the overall score (p = 0.15). High intensity photographs were better recognized. The emotion of happiness was the most recognized in both subtests. A significant difference between the overall score of the static and dynamic subtest, in favor of the dynamic one, was identified (p < 10-3). Conclusion: This work provides clinicians with a reliable tool to assess recognition of facial emotions in typically developing children.

Impaired Recognition of Static and Dynamic Facial Emotions in Children With Autism Spectrum Disorder Using Stimuli of Varying Intensities, Different Genders, and Age Ranges Faces.

A multitude of research on facial emotion recognition (FER) in Autism Spectrum Disorders (ASD) have been published since several years. However, these studies have mainly used static high intensity stimuli, including adult and/or children facial emotions. This current study investigated FER in children with ASD using an innovative task, composed of a combination of static (114 pictures) and dynamic (36 videos) subtests, including children, adolescent, and adult male and female faces, with high, medium, and low intensity of basic facial emotions, and neutral expression. The ASD group consisted of 45 Tunisian verbal children, and the control group consisted of 117 tunisian typically developing children. Both groups were aged 7-12 years. After adjusting for sex, age, mental age, and school grade, the ASD group scored lower than controls on all tests except for the recognition of happiness and fear in the static subtest, and the recognition of happiness, fear, and sadness in the dynamic subtest (p ≥ 0.05). In the ASD group, the total score of both the static and the dynamic subtest were positively correlated with the school grade (p < 0.001), but not with age, or mental age. Children with ASD performed better in recognizing facial emotions in children than in adults and adolescents on videos and photos (p < 0.001). Impairments in FER would have negative impact on the child's social development. Thus, the creation of new intervention instruments aiming to improve emotion recognition strategies at an early stage to individuals with ASD seems fundamental.

Validation of the Tunisian Social Situation Instrument in the General Pediatric Population.

BACKGROUND: In order to better understand the deployment of the theory of mind (ToM) in Tunisian neurotypical children, we have developed a new tool of assessment of the ToM called the "Tunisian Social Situations Instrument" (TSSI). We opted for the creation of this test in view of the intercultural differences in the development of social skills. Our purpose was to validate this tool in general pediatric population. METHODS: It was a cross-sectional evaluative study that aimed to validate the TSSI in the general pediatric population. We initially conducted a beta test and a pre-validation study before taking the initial version of the TSSI on 123 neurotypical children. Then, we followed the typical validation procedure: appearance validity, content validity, construct validity, and reliability study. RESULTS: Regarding the validity of appearance, the TSSI was comprehensible and adapted to the Tunisian pediatric population. About content validity, the exploratory factor analysis extracted 6 factors that explain 69.3% of the total variance. These factors were respectively social clumsiness types 1 and 2, intention attribution, emotional ToM, epistemic ToM, and simple comprehension questions. The subdomains of social clumsiness (types 1 and 2) and emotional ToM had a Cronbach alpha higher than 0.8. This factor structure as well as the significant inter-correlation between subdomains and the global score were in favor of a good construct validity. The internal consistency study showed good reliability of the final version of the TSSI (alpha of Cronbach at 0,809). Regarding the performance of children at the TSSI, we have noticed a significant association between the global score, age, and verbal intelligence. CONCLUSION: This work offers valuable insights about ToM and provides clinicians with a reliable tool to assess social clumsiness and emotional ToM in typically developing children.

[Adaptation of a soft-signs scale to children with autism spectrum disorders]. / Adaptatation d'une echelle des signes neurologiques a l'enfant souffrant de trouble envahissant du developpement.

BACKGROUND: Neurological soft signs (NSS) are endophenotypic markers of schizophrenia, and their high prevalence in pervasive developmental disorders (PDD) support the existence of the spectrum of psychoses. These NSS were evaluated by standardized scales which were not adapted to children with PDD. AIMS: This study aimed to propose an adaptation for children of a scale of NSS already used in adults. METHODS: 21 children with PDD (11 with autistic disorder, 10 with PDD not otherwise specified) aged 6-12 years and 21 controls matched on age, sex, and cognitive level were included. Evaluating tools were NSS scale of Krebs et al. adapted after a pilot-study with the accordance of its author; the Progressive Matrices of Raven for intellectual level, and ADI-R to confirm diagnosis. RESULTS: Patients were significantly more impaired on total score (p=0,001), motor coordination (p=0,008), motor integration (p=0,000), and sensory integration (p=0,001). There were no difference between patients and controls on abnormal movements and quality of lateralization. CONCLUSION: This adaptation of Krebs et al. scale seems to be a good tool for evaluating NSS in children, especially in those with PDD. A further validation study, including a larger sample is necessary.

[Memory impairments during child and adolescent depression]. / Les troubles mnesiques dans la depression de l'enfant et de l'adolescent.

AIM: This study aimed to evaluate basic performances on verbal memory in treatment-naïve children and adolescents with depression and in healthy control subjects. METHODS: 34 children and adolescents aged 6-16 years, suffering from a first major depressive disorder (DSM IV) and 34 controls matched on sex, age and cognitive ability were evaluated. Psychiatric diagnosis was assessed with the K-SADS-PL. The Child Depression Rating Scale (CDRS) was used to assess the severity of depression. Progressive matrices of Raven were used to evaluate intelligence. Two different cognitive tasks were administered to assess semantic and working memory: digit span test, and semantic and phonemic verbal fluency. RESULTS: A significant effect of diagnosis was found for digit span: patients showed lower performance on forward (p=0,015) and backward (p=0,002) digits. No difference was found between patients and controls on verbal fluency. The young age of the sample and the first depressive episode criteria may explain the absence of severe impairment of this type of semantic and working memory. CONCLUSION: These results support the hypothesis that memory deficits in depressive disorders are partly the result of poor encoding caused by a deficit in attention.

Epigenetics and ADHD: Toward an Integrative Approach of the Disorder Pathogenesis.

OBJECTIVE: Epigenetic hypothesis is one of the research pathways used to explain the complex etiology of neurodevelopmental disorders. This review highlights the findings of recent studies in the field of epigenetics in ADHD. METHODS: An electronic literature search using Medline. RESULTS: In the Gene × Environment interaction model, several clinical, genetic and molecular arguments support the epigenetic hypothesis in ADHD etiology. Environmental ADHD risk factors including toxic, nutritional factors and stressful life events lead to changes in DNA methylation and in histone modification levels. One critical CpG site located in the promoter of the DRD4 gene exhibited a specific pattern in ADHD children. A methylome wide exploration of DNA showed decreased methylation in vasoactive intestinal peptide receptor 2 gene, which was not replicated by further research. CONCLUSION: Current data require consolidation and could lead to the identification of biomarkers and the introduction of new modalities of treatment.