Childhood Disintegrative Disorder (CDD), or Heller's syndrome, is a rare neurodevelopmental condition characterized by late regression of language, social, and motor abilities after a period of normal development. Its etiology remains unclear, but may involve genetic, immunologic, or environmental factors. While biological causes are emphasized in most studies, psychosocial influences have been rarely examined. This report presents a case of CDD following severe psychosocial trauma, accompanied by comprehensive genetic testing and structured sleep assessment. A multidisciplinary evaluation including neurological, neuroimaging, and psychiatric assessments, physical examination, laboratory investigations, and whole-exome sequencing (WES) were performed. Developmental regression was assessed with the Autism Diagnostic Interview-Revised (ADI-R), and sleep disturbances with the Persian version of the Children's Sleep Habits Questionnaire (CSHQ). A 9-year-old girl showed progressive regression in cognitive, linguistic, and motor skills at age 5 after witnessing her mother's death and her brother's self-immolation. Self-immolation is the most tragic and violent method of suicide, and is considered a severe traumatic event. Neurological examination, EEG, and MRI were unremarkable. WES and CNV analyses revealed no pathogenic variants, making genetic etiology unlikely. ADI-R confirmed severe regression in social and communication domains. The CSHQ score was 69 (>41), indicating significant sleep disturbances. Treatment with aripiprazole (12.5 mg/day) yielded minimal improvement during one year of follow-up. She was also referred for behavioral and developmental rehabilitation. This case highlights severe psychosocial trauma acting as a critical trigger for the onset of CDD. It emphasizes the need for pediatric nurses to recognize trauma-related regression, integrate trauma-informed care, and coordinate family assessment and support.

High-definition transcranial direct current stimulation (HD-tDCS) offers targeted neuromodulation for neurological disorders. This case study reports its use in a 10-year-old boy with childhood disintegrative disorder and sensory hyposensitivity. After localizing deficits using auditory steady-state response with a Geodesic Transcranial Electrical Neuromodulation system, 20 HD-tDCS sessions were delivered to the left primary auditory cortex over 10 days. After treatment, Autism Treatment Evaluation Checklist scores showed a 66% improvement, with sensory gains in auditory (26%) and proprioceptive (50%) domains, sustained at 1-month, 3-month and 6-month follow-ups. The intervention was well-tolerated with no adverse effects, demonstrating HD-tDCS's potential as a viable treatment for sensory deficits in childhood disintegrative disorder.

Perioperative management of patients with autism spectrum disorder (ASD) often requires premedication and physical restraint. This study examined the characteristics of patients with ASD who required special interventions for general anesthesia, particularly physical restraint during induction. This retrospective study included patients diagnosed with ASD (autism, pervasive developmental disorder, Rett syndrome, Asperger's syndrome, or childhood disintegrative disorder) based on established criteria. All patients underwent general anesthesia at a hospital for patients with disabilities between April 2019 and March 2022. Data collected included clinical and demographic characteristics, perioperative management (premedication and anesthetic methods), surgical indications, physical restraint use, and induction time. A comparative analysis was conducted to identify differences in patient characteristics and induction times between physical restraint and no-restraint groups. Induction times were compared using Kaplan-Meier survival curves and log-rank tests. A total of 136 procedures were performed on 102 patients. Median age was 23.3 years (interquartile range: 12.8-35.2), 79% of participants were male, and approximately 40% exhibited self-injurious or aggressive behaviors. Dental procedures were the most common indication for anesthesia. Midazolam and pentobarbital were the most frequently administered premedications. Patients requiring physical restraint were generally larger and more likely to exhibit self-injurious or aggressive behaviors than those who did not. However, induction times were not prolonged in the physical restraint group compared with the no-restraint group. The characteristics identified in this study, such as large body size, self-injurious behavior, and aggressive behavior, may inform future research aimed at refining physical restraint use for patients with ASD.

Developmental regression in children, in the absence of neurological damage or trauma, presents a significant diagnostic challenge. The complexity is further compounded when it is associated with psychotic symptoms. We discuss a case series of ten children aged 6-10 years, with neurotypical development, presenting with late-onset developmental regression (>6 years of age), their clinical course and outcome at 1 year. A comprehensive clinical evaluation, laboratory investigations and neuroimaging ruled out any identifiable neurological cause. Mean age at regression was 7.65 (s.d. 1.5) years and mean illness duration was 10.1 (s.d. 8.5) months. The symptom domains included regression (in more than two domains - cognitive, socio-emotional, language, bowel and bladder incontinence), emotional disturbances, and hallucinatory and repetitive behaviours. Response to treatment was gradual over 6 months to 1 year. At 1-year follow-up, nine children did not attain pre-regression functioning, and residual symptoms included not attaining age-appropriate speech and language, socio-emotional reciprocity and cognitive abilities. These cases demonstrate a unique pattern of regression with psychiatric manifestations, distinct from autism spectrum disorder and childhood-onset schizophrenia. The diagnostic dilemma arises from the overlap of symptoms with childhood disintegrative disorder (CDD), childhood-onset schizophrenia and autism. This study underscores the diagnostic intricacies of this clinical presentation and highlights the need for longitudinal follow-up to unravel the transitions in phenomenology, course and outcome. For severe manifestations such as developmental regression, where the illness is still evolving, considering CDD as a non-aetiological and transitory/tentative diagnosis would aid against premature diagnostic categorisation and provide scope for ongoing aetiological search. Autism spectrum disorders (ASD) are a group of rapidly growing disabilities. They are characterized by repetitive patterns of behavior, interests, or activities, problems in social interactions. ASD is a complicated neurological disorder that is characterized by behavioral and psychological problems in children. These children become distressed when their surrounding environment is changed because their adaptive capabilities are minimal. The symptoms are present from early childhood and affect daily functioning. Children with ASD have co-occurring language problems, intellectual disabilities, and epilepsy at higher rates than the general population. Childhood disintegrative disorder, also called disintegrative psychosis and Heller syndrome, is a rare disorder that is categorized under ASD. In the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), childhood disintegrative disorder, along with other types of autism, are merged into a single spectrum called autism spectrum disorder. Childhood disintegrative disorder has a relatively late onset and is characterized by regression of previously acquired skills in the areas of social, language, and motor functioning. It is not known what causes this disease, and it is often seen that children who have this disorder have achieved normal developmental milestones before the regression of skills. The age at which this disease manifests is variable, but it is typically seen after three years of reaching normal milestones. The regression can be so fast that the child may be mindful of it, and in the beginning, may even ask what is going on with them. Some children may appear to be responding to hallucinations, but the most common and distinct feature of this disease is that the attained skills are gone. Many children are already delayed when the disorder becomes apparent, but these delays are not always evident in young children. This condition has been described as a devastating disease that affects both the individual's life and the family. Asperger syndrome (AS) was first described by Hans Asperger in 1944 as the behavioral characterization of individuals with difficulties in communication and social interaction. Since then, there has been considerable interest and debate surrounding AS. Although AS was introduced as a distinct diagnostic category in the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-4, 1994), its diagnostic label was removed from the subsequent edition, the Diagnostic and Statistical Manual of Mental Disorders (DSM–5), almost two decades later. Instead, AS was incorporated into a broader category known as autism spectrum disorders (ASD). This change reflected a growing recognition that autism encompasses a spectrum of experiences with varying degrees of severity and a wide range of associated characteristics. Autism spectrum disorders (ASD) encompass a range of neurodevelopmental conditions characterized by diverse degrees and manifestations. Typically emerging in early childhood, these disorders are marked by challenges in social communication and interaction and behavioral patterns that involve restricted interests and repetitive behaviors. The changes made to the classification of ASD in DSM-5 sparked controversy regarding the loss of the distinct Asperger identity. This shift in classification continues to be a topic of debate within the literature, as discussions revolve around the formulation and inclusion of AS within the broader ASD framework. Given the extensive historical background of AS, its distinct semiotics, and the relatively characteristic clinical presentations, specialists still utilize this diagnosis as a subtype of ASD characterized by the absence of language delay and a normal or above-average IQ. This topic review will describe the essential aspects of autism spectrum disorder and Asperger syndrome. For greater transparency, the following have been referred to: Asperger syndrome (AS): identified as a subgroup within the category of pervasive developmental disorders (PDD) as per the DSM-4-TR classification. ASD: categorized as a range of neurodevelopmental conditions in the DSM-5. Autism spectrum disorder of an Asperger syndrome type (ASD-AS): is a specific subgroup in the DSM-5 classification of ASD. ASD-AS is characterized by individuals who exhibit symptoms consistent with ASD, specifically at Level 1 severity, without accompanying intellectual impairment. Historical Perspective In 1944, approximately one year after psychiatrist Leo Kanner first described infantile autism, Hans Asperger published a case report introducing a condition called "autistic psychopathy."In 1980, the American Psychiatric Association (APA) officially acknowledged autism as a distinct category in the DSM-3, where it was initially presented as "infantile autism." Following that, in 1981, psychiatrist Lorna Wing reignited research on Asperger's work and rebranded "autistic psychopathy" as "Asperger syndrome." A few years later, in 1989, the first diagnostic criteria for Asperger syndrome were proposed. The 10th Revision of the International Classification of Diseases (ICD-10), introduced in 1993, was the first significant classification system to recognize Asperger syndrome (AS). Then, in 1994, AS was formally introduced as a distinct entity in the DSM-4. It was categorized within PDD alongside autism spectrum disorder, marking an important milestone in recognizing and understanding AS as a separate diagnostic category. While during this period, researchers were focused on developing measures to diagnose AS and differentiate it from high-functioning autism (HFA), the DSM-5 removed the diagnostic category of AS in 2013. The World Health Organization (WHO) also followed a similar approach in ICD-11, which came into effect in 2022. DSM Classification The systematic description of psychiatric disorders is complicated, particularly in child and adolescent psychiatry. Asperger Syndrome was included in the DSM-5-TR in the large family of PDD. PDD has five subtypes: Autism spectrum disorder. Asperger syndrome. Childhood disintegrative disorder. Pervasive developmental disorder not otherwise specified (PDD-NOS). Rett syndrome. In DSM-IV-TR, the symptoms and clinical specifiers for autistic disorder within the pervasive developmental disorders (PDD) category fell into three broad categories: social interaction, communication, and restricted and repetitive behavior. The diagnostic criteria for Asperger syndrome (AS) used to include: Individuals exhibiting at least two symptoms of social impairment and at least one symptom each from the category of communication deficits and restricted, repetitive behaviors (RRB). Delayed or impaired functioning in at least one of the following areas: social interaction, language as used in social communication, or symbolic or imaginative play with onset before the age of three years. Individuals who met the diagnostic criteria for autistic disorder (or another specific PDD) would not meet the criteria for AS. In such cases, the diagnosis of autistic disorder would take precedence. AS, as contrasted with autistic disorder, was differentiated based on several key factors, as outlined: Absence of diagnostic criteria in the communication domain. Lack of a requirement for onset before age 3. Addition of criteria specifying the absence of a language delay. Addition of criteria specifying the absence of a deficit in cognitive development. This classification proposed a differential diagnosis between AS and high-functioning autism (HFA), a type of autistic disorder characterized by normal cognitive functioning. The differential diagnosis between AS and HFA sparked significant debate due to uncertainties in defining the specific criteria for AS and the clinical overlap between the two conditions. This debate is reflected in the literature, which has produced contradictory results regarding the distinctiveness of AS and HFA. While research has identified nuanced differences between the two disorders, most studies have emphasized the similarities between AS and HFA. Ultimately, the DSM-5 removed PDD and its categorization and merged four subtypes into one category with a continuum named autistic spectrum disorders (ASD). This significant alteration was due to the assumption that PDD subgroups cannot be differentiated from one another certainly and reliably. As a result, several changes were made in the classification system, including the following: Elimination of PDD and its subtypes. Creation of a new diagnostic category called autistic spectrum disorders (ASD), encompassing autistic disorder, Asperger syndrome, childhood disintegrative disorder, and PDD-NOS. Addition of three levels of severity for ASD. These severity levels help provide a more comprehensive understanding of the individual's functional impairments and support needs. Shifting from the previous PDD classification, which consisted of 3 domains, to the ASD classification, which comprises 3 domains. These 2 domains encompass: 1. Impaired social communication and interaction. 2. RRB, interests, and activities. Addition of sensory symptoms in the RRB component of diagnostic criteria. Changing the specification of the age of onset from age 3 to "early childhood.". Creation of a new diagnostic category called "social communication disorder" (SCD) to include individuals with difficulties in social communication and interaction but who do not meet RRB criteria found in ASD. Removal of Rett syndrome from the classification based on recent genetic data. Including social communication and interaction-related deficits in one criterion while excluding the deficit related to spoken language. Controversy over the New Classification of ASD The new classification has faced criticism in the literature, with some authors suggesting that it may lead to narrower criteria for ASD. As a result, there is concern that certain individuals, particularly those who are cognitively able or previously diagnosed with AS or PDD-NOS (pervasive developmental disorder not otherwise specified), may no longer meet the criteria for an ASD diagnosis. In summary, the main argument is that while the reduced sensitivity of the new ASD classification may increase specificity, it can have negative implications for service eligibility and the ability of researchers to integrate information and data from studies conducted under these criteria. On the other hand, some authors argue that eliminating the specific diagnostic category for AS may lead to increased stigma toward individuals previously diagnosed with AS. This argument is based on the assumption that societies with a negative perception of autism as a significant disability may stigmatize individuals falling under the ASD umbrella. In contrast, AS has been associated with more positive stereotypes, and its removal as a separate category could potentially contribute to losing those positive associations. Thus, the new inclusion of AS in the category of ASD may have a negative effect on the identity of the individuals who have adopted this label as an identity. However, the literature on the potential impact of the DSM-5 changes on individuals previously diagnosed with AS is limited. The results of the discussions surrounding the changes in the ASD classification can be categorized into three groups: those who support the changes, those who oppose the changes, and those who express mixed feelings about the changes.

Childhood disintegrative disorder is a poorly understood neurobehavioral disorder of early childhood characterized by acute to subacute profound regression in previously developed language, social behavior, and adaptive functions. The etiology of childhood disintegrative disorder remains unknown and treatment is focused on symptomatic management. Interest in neuroinflammatory mechanisms has grown with the increased recognition of autoimmune brain diseases and similarities between the presenting symptoms of childhood disintegrative disorder and pediatric autoimmune encephalitis. Importantly, a diagnosis of pediatric autoimmune encephalitis requires evidence of inflammation on paraclinical testing, which is absent in childhood disintegrative disorder. Here we report 5 children with childhood disintegrative disorder who were initially diagnosed with possible autoimmune encephalitis and treated with immunotherapy. Two children had provocative improvements, whereas 3 did not change significantly on immunotherapy. Additionally, a sixth patient with childhood disintegrative disorder evaluated in our Autoimmune Brain Disease Clinic showed spontaneous improvement and is included to highlight the variable natural history of childhood disintegrative disorder that may mimic treatment responsiveness.