The article presents the results of a study of adaptive skills on the Vineland Scale in adolescents with autism spectrum disorders and mental retardation. The assessment of the level of general, verbal and non-verbal in-telligence according to the D. Wexler (WISC) test adapted by A. Panasyuk, neuropsychological testing with as-sessment of the severity of disorders in brain blocks according to A. Luria, assessment of complex visual-motor reaction. The study involved 34 adolescents with autism spectrum disorders and intellectual disability. Statisti-cal data processing using correlation and one-factor analysis of variance has been carried out. It has been found that the level of adaptive skills (everyday life skills and socialization) in adolescents with autism spectrum disorders and mental retardation is correlated with the level of verbal intelligence. The degree of development of adaptive communication skills depends on the level of general intelligence. A decrease in the level of verbal intelligence corresponds to a greater number of disorders in the work of all brain blocks according to A.R. Luria, general intelligence – II brain block. The degree to which a teenager learns socialization skills depends on the class of sensorimotor reactions.

Objective: This study aimed to know the impact of autism in Iraqi children by conducting a cross-sectional study during 2020-2021, where 110 cases of autistic children were collected and distributed into two groups: 10 control cases and 100 patient cases. Moreover, this study also demonstrated the importance of health behavior for these Iraqi children. Methodology: The demographic information and data were collected in this study from Baghdad Hospitals over one year. This study used two scales (CARS & Vineland 3) to monitor children with autism spectrum disorder (ASD) to cover both adaptive skills and intellectual skills, as many ASD children may have an associated intellectual disability. Results: The statistical analysis program "IBM SPSS)" was used to find out the mean ages and SDs, which was 6.5 ± 1.6 of the control group. As for the patient group, the mean and SDs were (6.3 ± 1.8). According to the first questionnaire, the psychological state of patients was evaluated on the CARS scale, and low levels were found in all evaluation items, and the total score was 45.8 ± 6.09 / 60 with a diagnosis of severe autism. The same applies to the patient group, as there were no statistically significant differences between the two groups. Total score 48 ± 5.9 with a diagnosis of severe autism. Conclusion: Patients and control groups were evaluated according to the Vineland Scale 3. In both groups, they did not achieve the required score, and low scores were found, as the total score for the patients' group was 165.65 ± 68.9, while the total score for the control group was 107 ± 65.4. This research demonstrated that the health behavior of children is significant factor for their health improvement.

Creatine transporter deficiency (CTD) is a rare X-linked genetic disorder characterized by intellectual disability (ID). We evaluated the clinical characteristics and trajectory of patients with CTD and the impact of the disease on caregivers to identify relevant endpoints for future therapeutic trials. As part of a French National Research Program, patients with CTD were included based on (1) a pathogenic SLC6A8 variant and (2) ID and/or autism spectrum disorder. Families and patients were referred by the physician who ordered the genetic analysis through Reference Centers of ID from rare causes and inherited metabolic diseases. After we informed the patients and their parents/guardians about the study, all of them gave written consent and were included. A control group of age-matched and sex-matched patients with Fragile X syndrome was also included. Physical examination, neuropsychological assessments, and caregiver impact were assessed. All data were analyzed using R software. Thirty-one patients (27 male, 4 female) were included (25/31 aged 18 years or younger). Most of the patients (71%) had symptoms at <24 months of age. The mean age at diagnosis was 6.5 years. Epilepsy occurred in 45% (mean age at onset: 8 years). Early-onset behavioral disorder occurred in 82%. Developmental trajectory was consistently delayed (fine and gross motor skills, language, and communication/sociability). Half of the patients with CTD had axial hypotonia during the first year of life. All patients were able to walk without help, but 7/31 had ataxia and only 14/31 could walk tandem gait. Most of them had abnormal fine motor skills (27/31), and most of them had language impairment (30/31), but 12/23 male patients (52.2%) completed the Peabody Picture Vocabulary Test. Approximately half (14/31) had slender build. Most of them needed nursing care (20/31), generally 1-4 h/d. Adaptive assessment (Vineland) confirmed that male patients with CTD had moderate-to-severe ID. Most caregivers (79%) were at risk of burnout, as shown by Caregiver Burden Inventory (CBI) > 36 (significantly higher than for patients with Fragile X syndrome) with a high burden of time dependence. In addition to clinical endpoints, such as the assessment of epilepsy and the developmental trajectory of the patient, the Vineland scale, PPVT5, and CBI are of particular interest as outcome measures for future trials. ANSM Registration Number 2010-A00327-32.

During development, children face a number of demands and cognitive, behavioral, and social challenges necessary for growth. Cognitive skills make individuals competent and allow them to interact with their environment. To identify the cognitive skills that promote better social insertion in children with autism spectrum disorder within 12 months. Prospective cohort study. In this study, 21 children aged 3-12 years were assessed, and their mothers were interviewed. Children were enrolled in regular or special autistic schools. Twelve months after the first assessment, the same children participated in the second assessment. In individual interviews, mothers provided data by answering the Vineland Adaptive Behavior Scale. Each child was assessed individually using the fourth edition of the Stanford Binet Intelligence Scale 4th Edition. In the first assessment, the Stanford Binet areas and total scores correlated with the communication domains, daily life abilities, socialization, and total score of the Vineland Scale. After 12 months, a correlation was observed between the Stanford Binet areas and the total and communication domains, daily life abilities, socialization, motor abilities, and total score on the Vineland Scale. Logic mathematics and memory promote better social insertion in children with autism spectrum disorder. General cognitive ability promotes communication.

La Vineland-II dans la recherche interventionnelle sur l’autisme : une revue de la littérature

Background: Autism Spectrum Disorder (ASD) affects 1 out of every 54 children in the United States, impairing their social skills and independence. Current evidence from clinical trials and meta-analyses suggests that, individually, both music therapy and interaction with typically developing peers (TD) can improve social skills in children with ASD. However, there are no clearly defined parameters for the combined efficacy of these interventions and their long-term effects. Therefore, conducting new studies in this area is of utmost importance not only for the scientific community but also for children with ASD and their caregivers. Objective: To evaluate the effect of a new add-on therapy on improving social interaction skills in children with severe ASD –the MusT-In Therapy– which combines music therapy and interaction with TD peers. Methods: This is a phase II single-center, two-arm, parallel-group, randomized 1:1, assessor-blinded trial. 116 children with severe ASD (3-6 years old) will be assigned to either the standard of care or 30 weekly sessions of the MusT-In therapy plus standard of care. Improvement in social interaction will be assessed after 30 therapy sessions with the Vineland Scale 3rd edition as the primary outcome. Follow-up assessment of the outcome will be at 1 and 3 months after the intervention has finished. Discussion: Given the lack of robust evidence-based therapies for ASD, the development of new treatments is paramount. Children with severe ASD have been underrepresented in previous trials and parental burden increases with the severity of the spectrum. If our intervention proves to be effective it could be the basis of a new treatment option.

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome

Évaluation de la prise en charge institutionnelle d’enfants atteints d’un trouble envahissant du développement

Adaptive behavior (AB) is defined as the skills acquired in response to everyday life demands. AB profiles of genetic syndromes have been proposed, but the literature on them has not been conclusive, mainly due to the large number of these syndromes and marked within-profile variability. The aim of the present study was to analyze the different ABs observed in subjects with Williams-Beuren Syndrome (WBS), Down Syndrome (DS) and Autistic Spectrum Disorder (ASD) through a literature review using the PubMed and Scopus database. The results indicated that Socialization strongly affects WBS; however, this group demonstrated the greatest amount of difficulty in the domain of daily living. The DS group demonstrated better performance in Socialization and Daily Living compared to Communication. The ASD group displayed better performance in Daily Living and Communication and the worst performance in socialization. Although the reviewed studies appear to demonstrate controversial results related to how ABs occur in each group, the main skills and shortages remained similar to each corresponding diagnostic behavioral characteristic. We conclude that it is possible to build AB profiles in the analyzed diagnostic groups, and we believe that these profiles may facilitate the construction of intervention plans. Keywords: Adaptive behavior, Autistic spectrum disorder, Down syndrome, Williams-beuren syndrome, vineland scale, daily living domain, socialization domain, communication domain.

Facteurs liés à l’évolution des compétences adaptatives chez 77 jeunes enfants avec troubles du spectre autistique (TSA)

We studied 14 patients with severe myoclonic epilepsy of infancy (SMEI), mean age ± SD 8.5 ± 4.14 yr, 10 girls, and 13 patients with myoclonic astatic epilepsy (MAE), mean age ± SD 11.8 ± 5.19 yr, six girls. All patients underwent EEGs, cranial magnetic resonance imaging (MRI) and the Vineland scale for assessment of adaptive behavior in areas related to communication, activities of daily living, socialization, and motor skills. Our study revealed abnormalities in the neurological examination (ataxia, mild pyramidal tract abnormalities, hyperactivity, autism spectrum disorder) in all 14 patients with SMEI and 4 of the 8 patients with MAE. EEGs showed background slowing, and focal and generalized epileptiform activity in 10 patients with SMEI. In patients with MAE EEGs showed monomorphic centroparietal theta rhythm in nine patients, and generalized epileptiform activity in all patients. Deterioration of adaptive behavior occurred in all the patients with SMEI and in eight patients with MAE. SMEI and MAE showed clinical and EEG findings according to those previously described. Nevertheless, severe epileptic encephalopathy was detected in patients with SMEI while patients with MAE presented with a milder form of epileptic encephalopathy. The outcome was good in approximately one third of the patients with MAE.

Development of enzyme replacement therapy for Farber disease and other disorders with ceramide storage

Quantitative neuroimaging in mucolipidosis type IV

Évaluation prospective d’enfants atteints d’un trouble envahissant du développement après deux ans de prise en charge en hôpital de jour

Cognitive impairment is observed commonly in children with a history of infantile spasms (IS). The goal of this study was to prospectively examine the effect on cognitive outcome of a neuroprotective agent used as adjunctive therapy during treatment of the spasms. In a randomized controlled trial, patients received a standardized therapy plus flunarizine or placebo. The standardized treatment consisted of vigabatrin as first-line therapy. Nonresponders were switched to intramuscular synthetic adrenocorticotropic hormone (sACTH depot) after 2 weeks and, if necessary, to topiramate after two additional weeks. The Vineland Adaptive Behavior Scale (VABS) and Bayley Scales of Infant Development (BSID) were used as outcome measures 24 months after the intervention. Sixty-eight of 101 children diagnosed over 3 years in seven centers in Canada received either adjunctive flunarizine or placebo. Sixty-five of the 68 children (96%) became spasm-free within 8 weeks and no late relapse occurred. Bayley and Vineland results were available at baseline and at 24 months in 45 children. There was no significant difference in the BSID developmental quotient between the flunarizine- and placebo-treated children at baseline (44.3 ± 35.5 vs. 30.9 ± 29.8; p = 0.18) or 24 months later (56.9 ± 33.3 vs. 46 ± 34.2; p = 0.29). However, the 10 flunarizine-treated children with no identified etiology had a better outcome than the eight controls at 24 months on both the Vineland Scale (84.1 ± 11.3 vs. 72.3 ± 9.8; p = 0.03) and the Bayley Scale (87.6 ± 14.7 vs. 69.9 ± 25.3; p = 0.07). Our study failed to demonstrate a protective effect of flunarizine on cognitive outcome in a cohort of children with IS. An analysis of subgroups suggested that flunarizine may further improve cognitive outcome in children with no identified etiology.

Echolalia is a verbal disorder, defined as 'a meaningless repetition of the words of others'. It is pathological, automatic and non-intentional behaviour, often observed in a variety of neurological and psychiatric disorders and above all in autism. We assume that echolalia is an imitative behaviour that is due to difficulties in inhibiting automatic repetition as seen in patients with frontal lobe damage. Our aim is to study the occurrence of echolalia under experimental conditions to investigate the nature of the phenomenon and its relationship with the severity of autism. Eighteen participants with autism from 17 to 36 years old were recruited; they were administrated the Vineland scale, the Observational Rating Scale of Basic Functions and the Echolalia Questionnaire. In the Echolalia Questionnaire, questions were directly addressed to the autistic subject (induced procedure) or to the subject's caregiver while the subject was free to do what he wanted (incidental procedure). The data were analysed by multivariate regressions and Pearson's correlations. The results showed that echolalia occurred in both experimental situations; the mean value was significantly higher in the induced procedure, but results did not support the correlation with Vineland's score in the incidental procedure. It is likely that the two situations activated different processes. In particular, echolalia was statistically higher in the induced procedure as compared with the incidental one only for subjects with low score on Vineland, but in the incidental procedure, the presence of echolalia appeared to be uninfluenced by the functional capacity of subjects. The two experimental conditions require different monitoring systems to control this verbal behaviour. The echolalic phenomenon is an expression of dependence on the environment and may occur in a situation in which the autistic person is participating in a communicative act and, lacking inhibitory control, repeats the other's communication rather than selecting an answer. The deficit in inhibitory control in this situation does not seem to be present in subjects with higher efficiency. Incidental echolalia reflects the inability of the subject to filter out background environmental noise, which occasionally results in environmental dependency.

Late-onset spasms (LOS) are epileptic spasms starting after the first year of life. Our aim was to assess the electroclinical features and the follow-up of the patients with this particular type of epileptic seizure. We retrospectively included all patients with LOS confirmed by electroencephalography between 1989 and 2008. Clinical and electroencephalographic findings at diagnosis and during follow-up were collected. The Vineland scale was used to evaluate the neuropsychological outcome. We report 19 patients with LOS of 240 patients with recorded epileptic spasms. Eighteen patients had an epileptic encephalopathy with late-onset spasms. The ictal electroencephalography (EEG) showed a focal or generalized discharge of triphasic slow-waves, slow-spikes, or slow spikes-waves with fast activities. The interictal EEG usually showed focal or generalized slow-waves or slow spikes-waves without hypsarhythmia. LOS were controlled in only six patients. Three developed typical Lennox-Gastaut syndrome and 10 had a severe epileptic encephalopathy. Neuropsychological outcome was evaluated in 15 patients with the Vineland scale. Cognitive functions were normal in only one patient, whereas severe cognitive delay was observed in 12 of 15. Epileptic spasms may appear after the age of one. They are more frequently observed in patients with epileptic encephalopathy. In few patients this type of seizure was observed before the patients fulfill Lennox-Gastaut syndrome criteria. In one patient, we diagnosed a focal epilepsy with seizures occurring in cluster. When LOS are related to an epileptic encephalopathy, this epileptic syndrome seems to be linked to refractory epilepsy and severe cognitive outcome unrelated to the etiology.

Amygdala Enlargement in Toddlers with Autism Related to Severity of Social and Communication Impairments

Results of several studies using the Vineland scale to explore links between social behavior and theory of mind (ToM) have produced mixed results, especially for children on the autism spectrum. The present pair of studies developed a psychometrically sound, age-referenced measure of social maturity to explore these issues further. In Study 1, 37 typically developing preschoolers took a battery of standard false belief tests of ToM and were rated by their teachers on a newly developed age-referenced social maturity scale with 7 items. In Study 2, a further group of 43 children aged 4 to 12 years (13 with autism, 14 with Asperger's disorder and 16 with typical development) took part in the same procedure. In Study 1, ToM was found to predict typical preschoolers' social maturity independently of age and verbal maturity. In Study 2, children with autism scored below age-matched and younger typical developers in both ToM and social maturity. Those with Asperger's disorder did well on ToM but poorly on social maturity. Study 2 replicated Study 1's finding (for typical children and for the full sample) that ToM was linked with social maturity independently of age and verbal ability, although the link was not independent of autism diagnosis. Teachers are capable of rating children's social behavior with peers as advanced, on-time or delayed for their age. Suggestive links between these ratings and ToM require further investigation, especially among children on the autism spectrum.

Opsoclonus-myoclonus ataxia syndrome is a paraneoplastic syndrome of cerebellar damage associated with neuroblastoma. The authors assessed psychiatric symptoms of opsoclonus-myoclonus ataxia syndrome in 17 children, who were 16 months to 12(1/2) years of age. Psychiatric symptoms examined included disruptive behavior, affective dysregulation, irritability, impulsivity, cognitive impairment, and poor attention.