David Cohen

[This corrects the article DOI: 10.2196/76435.].

Background: This case highlights the clinical complexity of caring for individuals with autism spectrum disorder (ASD) and severe intellectual developmental disorder (IDD), particularly in the context of prolonged mechanical restraint, psychotropic polypharmacy, and life‐threatening somatic complications. It illustrates how a multidisciplinary and individualized neurobehavioral approach can lead to major clinical improvement despite an initially poor prognosis and limitations regarding intensive care. Case Presentation: Nathan is a 24‐year‐old man of Slavic origin with ASD and severe IDD who had been subjected to continuous mechanical restraint for 2 years and was receiving five concomitant antipsychotic medications. He presented with severe behavioral dysregulation in a context of chronic anxiety, marked communication limitations, recurrent aspiration pneumonia related to gastrostomy feeding, and adverse effects associated with antipsychotic treatment. He was referred to a specialized neurobehavioral unit, where a multidisciplinary team—including psychiatry, intensive care, palliative care, and ethics specialists—agreed on a conservative management plan. Antipsychotic treatment was streamlined to clozapine, fluoxetine was later introduced, and care combined nutritional rehabilitation, communication‐focused support, and individualized psychoeducational, occupational, and psychomotor interventions in a highly structured environment. Oral feeding was gradually reintroduced, ultimately allowing gastrostomy removal, and restrictive measures were progressively discontinued. Overtime, his behavioral symptoms, emotional regulation, physical health, mobility, and overall quality of life improved markedly. Conclusions: This case underscores the importance of integrated multidisciplinary care in complex ASD/IDD presentations involving severe behavioral and somatic complications. Psychopharmacological simplification, environmental and communication adaptations, and individualized rehabilitation strategies were central to the improvement in both somatic outcomes and behavioral functioning. It also highlights the need to recognize prolonged mechanical restraint as a harmful and unsustainable management strategy in individuals with severe neurodevelopmental disorders.

Objectives: Many children with neurodevelopmental disorders (NDD) show complex, multidimensional impairments meeting criteria for multiple NDD, yet remain “diagnostically homeless” as DSM-5 lacks a Multidimensional Impairment (MDI) category. We investigated the prevalence of genetic abnormalities in such complex NDD cases. Methods:Between 2017 and 2019, we diagnosed MDI in 666 patients. Among them, 122 (18%) underwent genetic assessment (DNA microarrays, karyotype, gene panels, FISH, FMR1 testing, exome/genome sequencing). We used univariate analyses and clustering to explore associations between clinical dimensions and genetic findings. Results: Genetic abnormalities were identified in 78 patients. Of these: (1) 41 had known abnormalities usually linked to complex NDD (e.g., del22q11.2); (2) 16 had mutations associated with severe ASD/ID (e.g., GRIA3 on Xq25); (3) 11 showed novel abnormalities not previously linked to NDD (e.g., duplication Xq21.1 including POU3F4); (4) 10 had variants of uncertain significance. Depending on classification, prevalence ranged from 47% (57/122, definite or predisposition) to 64% (78/122, including uncertain/possible pathogenic variants). Neither clinical dimensions nor severity clusters were associated with the presence of genetic abnormalities. Conclusion:Despite a referral bias toward severe cases, the high rate of genetic findings in this cohort underscores the need for more systematic genetic testing in complex NDD with multidimensional impairment.

Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders whose core symptoms are impairments in socio-communication and repetitive interests and stereotypies. Although motor impairments are not cardinal symptoms per se, many children with ASD have postural and motor coordination disabilities. Here, we investigate them dynamically through human-machine interaction, analysing data previously collected during two experiments: a joint attention (JA) task involving a human-robot interaction with children with ASD and typically developing (TD) controls; a motor imitation task involving a tightrope walker avatar (TW), children with ASD, with developmental coordination disorder (DCD) and TD children. Participants were recorded using RGB and RGB-D cameras, allowing for the extraction of kinematic and spectral features. Movement Power Spectral Density analysis demon-strated that children with ASD displayed more energetically costly behaviors across all frequencies when contrasted with TD children (both experiments) and children with DCD (TW experiment). These findings affirm the distinct motor complexity of children with ASD, suggesting the presence of a unique motor signature potentially different from that observed in children with DCD.

Background: Specific learning disorder in reading (SLD reading), commonly named dyslexia, is a neurodevelopmental condition affecting reading. Current best practice recommendations for SLD reading emphasize the necessity of including graphophonological interventions. The serious game Mila-Learn, which is based on rhythm training, showed promising results in a prior randomized trial. However, it lacked a component of graphophonological training. Objective: This study aimed to evaluate the effectiveness of Poppins, a new digital medical device that combines rhythm-based and graphophonological training for improving reading and phonological skills in children with SLD reading. We also explored its performance against Mila-Learn, the earlier version based on rhythm training only. Methods: A single-arm study without an active control group was conducted with 38 children (aged 7-11 years) diagnosed with SLD reading. The participants completed an 8-week training program with Poppins (five 20-minute sessions per week). Pre- and posttraining assessments measured reading accuracy and speed, phoneme deletion, and phonological discrimination. Statistical analysis included pre- and postcomparisons (primary analysis) and comparisons with children's improvement from a previous randomized controlled trial of Mila-Learn, an earlier version of the device (exploratory analysis). Results: The participants demonstrated significant improvements in reading accuracy (+11.46 words correctly read; P<.001), reading speed (+10.26 words read; P<.001), and phoneme deletion (+2.87 points; P<.001). No significant change was observed in reading comprehension for younger participants (grades 2-3; P=.09), although improvements were noted in older children (grades 4-5, P=.03). Exploratory analysis comparing children’s improvements with Mila-Learn and Poppins revealed similar gains in reading accuracy and speed but revealed superior improvement in phonological skills for the Poppins group, with a moderate effect size according to the benchmarks by Cohen (Cohen d=0.48, P=.02). Conclusions: Poppins is an effective and safe tool for enhancing reading and phonological skills in children with SLD reading. By integrating rhythm-based and graphophonological exercises, the device aligns with best practice recommendations for curative intervention. Future research should explore its long-term effects and medicoeconomic impact and compare outcomes with those of conventional therapy, as serious games provide an engaging, scalable method for delivering such interventions. Trial Registration: ClinicalTrials.gov NCT06596980; https://clinicaltrials.gov/study/NCT06596980