1. Ávila-Álvarez A, Alonso-Bidegain M, Ramos-Veiguela D, Iglesias-Jove E, De-Rosende-Celeiro I. Changes in social functioning and engagement during canine-assisted intervention for children with neurodevelopmental disorders in the context of an early intervention service. Research in developmental disabilities. 2022; 124: 104216.

PURPOSE: The objectives were to evaluate the feasibility of early implementation of a canine-assisted intervention (CAI) for children with neurodevelopmental disorders, and to determine the changes in social functioning and in engagement experienced by the participants. MATERIALS AND METHODS: A CAI consisting of 24 sessions was piloted in an intra-subject quasi-experimental longitudinal design. The outcome measures were the Assessment of Communication and Interaction Skills (ACIS) and Individual Child Engagement Record-Revised (ICER-R). RESULTS: No adverse events or side-effects were noted. The sample consisted of 44 participants (median age 37 months). A total of 33 children (75%) attended all sessions. Main results showed that after completing the intervention, the overall ACIS score improved significantly (p < 0.001); the effect size was large. There was a significant improvement in the scales of the ICER-R from baseline to the final assessment: overall engagement (p < 0.001), frequency of repetitive behaviours (p < 0.001), frequency of interaction between the child and adults (p < 0.001), and the quality of this interaction (p < 0.001); the effect sizes ranged from medium to large. CONCLUSIONS: The early application was feasible. The results in the areas of social functioning and engagement suggest that this CAI may be a useful complementary strategy in early therapeutic intervention with these children. WHAT THIS PAPER ADDS?: The results of implementation of a canine-assisted intervention (CAI) at an early therapeutic intervention unit for children with neurodevelopmental disorders are not known. This research supported the feasibility and positive impact of a CAI in a population consisting of children with neurodevelopmental disorders in the earliest stages of their life, with similar proportions of participants with global developmental delay and autism spectrum disorder. The study was pioneering in the development of this form of actions in an early intervention service for children with these health conditions. The intervention appears feasible and the results extend the existing evidence base for this intervention modality. The findings suggest significant improvements of a medium to large size in the domains of communication skills and social relations, engagement levels, frequency and quality of interaction with adults and repetitive behaviours after 12 and 24 weekly CAI sessions.

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2. Chen X, Chen J, Liao M, Wang G. Early Onset of Impairments of Interpersonal Motor Synchrony in Preschool-Aged Children with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022.

Characteristics of interpersonal motor synchrony in individuals with autism spectrum disorder (ASD) have been investigated only in older children and adolescents, which calls for investigations in younger samples. The interpersonal motor synchrony was compared between preschool-aged children with (n = 23) and without ASD (n = 24) during free plays with familiar teachers. Children with ASD exhibited reduced synchrony of the upper body and trunk compared with typically developing (TD) children. Moreover, the degree of synchrony in ASD group was not above than chance. For autistic children, interpersonal motor synchrony was negatively correlated with aspects of autistic traits. The results suggest that the impairment of interpersonal motor synchrony has an onset earlier than school age and is a potential pathway for understanding autistic traits.

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3. Conson M, Senese VP, Zappullo I, Baiano C, Warrier V, Raimo S, Rauso B, Salzano S, Baron-Cohen S. The effect of autistic traits on disembedding and mental rotation in neurotypical women and men. Scientific reports. 2022; 12(1): 4639.

Recent data has revealed dissociations between social and non-social skills in both autistic and neurotypical populations. In the present study, we investigated whether specific visuospatial abilities, such as figure disembedding and mental rotation, are differently related to social and non-social autistic traits, in neurotypical women and men. University students (N = 426) completed the Autism Spectrum Quotient (AQ), figure disembedding and mental rotation of two-dimensional figures tasks. AQ social skills (AQ-social) and attention-to-details (AQ-attention) subscales were used as measures of social and non-social autistic traits, respectively. Mental rotation was affected by a significant interaction between sex, social and non-social traits. When non-social traits were above the mean (+ 1 SD), no sex differences in mental rotation were found. Instead, below this value, sex differences depended on the social traits, with men on average outperforming women at middle-to-high social traits, and with a comparable performance, and with women on average outperforming men, at lower social traits. A small positive correlation between figure disembedding and social traits was observed in the overall sample. These results are interpreted in terms of the hyper-systemizing theory of autism and contribute to the evidence of individual differences in the cognitive style of autistic people and neurotypical people with autistic traits.

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4. Dean EE, Burke KM, Shogren KA. Understanding Career Goals Set by Autistic Youth. The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2022; 76(3).

IMPORTANCE: Recent years have seen a shift to strengths-based approaches promoting self-determination and career-related interests among autistic youth. Research is needed to understand the career-related goals set by autistic youth on the basis of their interests. OBJECTIVE: To descriptively explore the career design goals set by autistic youth engaged in the self-determined career design model (SDCDM) intervention. DESIGN: Content analysis was used to analyze the types of goals set by youth during intervention. Two researchers separately reviewed the goal set by each autistic youth (one goal per youth) and determined categories for each goal. SETTING: Preferred community location (usually the youth’s home) in an urban Midwestern city. PARTICIPANTS: Twenty-one autistic youth. INTERVENTION: SDCDM. OUTCOMES AND MEASURES: Participants set goals as part of the SDCDM, which were recorded using Goal Attainment Scaling (GAS). Researchers used GAS to support each participant in setting a measurable and objective goal and describing criteria for meeting the goal. RESULTS: Categories included enhancing self-management, obtaining employment, exploring career opportunities, enhancing learning, and enhancing self-advocacy. CONCLUSIONS AND RELEVANCE: The findings from this study indicate that autistic youth set goals related to obtaining employment and enhancing generalizable 21st-century skills, such as self-advocacy and self-management. What This Article Adds: The SDCDM is a tool occupational therapy practitioners can use to support youth in setting and working toward career goals.

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5. Deemyad T. Lateralized Changes in Language Associated Auditory and Somatosensory Cortices in Autism. Frontiers in systems neuroscience. 2022; 16: 787448.

Lateralized specialization of the two cerebral hemispheres is a fundamental structural hallmark of the human brain and underlies many cognitive functions and behavioral abilities. In typical developing individuals the influence of handedness on performance of various sensory modalities and the cortical processing has been well recognized. Increasing evidence suggests that several neurodevelopmental and psychiatric disorders such as bipolar disorder, schizophrenia, and autism spectrum disorders (ASD) are associated with abnormal patterns of cerebral lateralization. Individuals with ASD exhibit abnormal structural and functional lateralization of circuits subserving motor, auditory, somatosensory, visual face processing, and language-related functions. Furthermore, a high prevalence of atypical handedness has been reported in ASD individuals. While the hemispheric dominance is also related to functions other than handedness, there is a clear relationship between handedness and language-related cortical dominance. This minireview summarizes these recent findings on asymmetry in somatosensory and auditory cortical structures associated with language processing in ASD. I will also discuss the importance of cortical dominance and interhemispheric disruption of balance between excitatory and inhibitory synapses as pathophysiological mechanisms in ASD.

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6. DuBay M. Cultural Adaptations to Parent-Mediated Autism Spectrum Disorder Interventions for Latin American Families: A Scoping Review. American journal of speech-language pathology. 2022: 1-18.

PURPOSE: This scoping review maps research in parent-mediated autism spectrum disorder interventions culturally adapted for Latin American populations, to provide an overview of the available evidence across perspectives and disciplines and to identify gaps in the research knowledge base. METHOD: A systematic search for relevant articles was conducted using six databases and archival and forward hand searches of articles that met inclusion criteria. Titles and abstracts were reviewed by three authors, followed by full-text reviews of remaining articles. Twenty-one articles met inclusion criteria and were retained for data extraction. The ecological validity framework was used to frame data analysis and results. RESULTS: In total, 19 studies described unique implementations of 16 different interventions, which spanned 21 articles, representing a range of study designs and implementing a variety of adaptations. Most adaptations consisted of surface-structure changes, spanning the dimensions of language, concepts, methods, context, and persons. Few articles were identified that described international studies or studies examining direct parent-mediated strategies with large sample sizes and strong methodological designs. CONCLUSIONS: Several intervention adaptations that have potential for clinical utility are presented. Clinicians working with Latin American families are encouraged to discuss potential adaptations openly with families before choosing and implementing specific strategies.

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7. Green J, Leadbitter K, Ainsworth J, Bucci S. An integrated early care pathway for autism. The Lancet Child & adolescent health. 2022; 6(5): 335-44.

In this Viewpoint, we argue for the need to reconceptualise an integrated early-care provision for autistic children in the light of their enduring support needs and relevant new findings from developmental and intervention research. This model goes beyond short-term reactive care to outline an early proactive, evidenced, developmentally phased, and scalable programme of support for autistic children and their families from the earliest opportunity, with timely access to later step-up care when needed. We also integrate this model with emerging opportunities from data science and digital health technologies as a potential facilitator of such a pathway. Building on this work, we argue that the best current autism intervention evidence can be integrated with concepts and evidence gained in the management of other enduring health conditions to support an autistic child and their family through their early development. The aim is to improve those children’s social communication abilities, expand their range and flexibility of interests, and mitigate any negative impacts of sensory difficulties and restricted, repetitive behaviours on the child and their family wellbeing. The pathway solutions described could also be adapted for older adolescents and adults and could be used within the health systems of different countries, including within low-income and middle-income contexts.

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8. Holingue C, Kalb LG, Musci R, Lukens C, Lee LC, Kaczaniuk J, Landrum M, Buie T, Fallin MD. Characteristics of the autism spectrum disorder gastrointestinal and related behaviors inventory in children. Autism research : official journal of the International Society for Autism Research. 2022.

Gastrointestinal (GI) symptoms are one of the prevalent co-occurring issues in autism spectrum disorder (ASD), though the range of symptom frequency estimates varies dramatically across studies, which can limit the further research of GI issues in ASD as well as potential treatment strategies. The wide range of prevalence estimates is partly due to the lack of standardized, validated measures of GI symptoms among people with ASD. The goal of this study was to (1) develop a measure, which included non-verbal and mealtime behaviors, to assess for GI symptoms and (2) evaluate its psychometric characteristics. This was accomplished by drawing on two existing tools, Autism Treatment Network Gastrointestinal Inventory and the Brief Autism Mealtime Behavior Inventory, and deriving new items, to create the « ASD Gastrointestinal and Related Behaviors Inventory » (ASD-GIRBI). The ASD-GIRBI was piloted in an online registry of families with a child with ASD. A psychometric analysis was carried out in a sample of 334 children aged 6-17 years with ASD, resulting in a 36-item tool. The Cronbach’s alpha for the overall scale was 0.88. Exploratory factor analysis identified a seven-factor model (1. Bowel movement pain; 2. Aggressive or disruptive during mealtimes; 3. Particular with foods; 4. Abdominal pain and upset stomach; 5. Refusing food; 6. Constipation and encopresis; 7. Motor or other behaviors). Following validation in an independent sample with clinical evaluation of GI symptoms, this tool will be helpful for both research and clinical purposes.

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9. Khan ZUN, Chand P, Majid H, Ahmed S, Khan AH, Jamil A, Ejaz S, Wasim A, Khan KA, Jafri L. Urinary metabolomics using gas chromatography-mass spectrometry: potential biomarkers for autism spectrum disorder. BMC neurology. 2022; 22(1): 101.

BACKGROUND: Diagnosis of autism spectrum disorder (ASD) is generally made phenotypically and the hunt for ASD-biomarkers continues. The purpose of this study was to compare urine organic acids profiles of ASD versus typically developing (TD) children to identify potential biomarkers for diagnosis and exploration of ASD etiology. METHODS: This case control study was performed in the Department of Pathology and Laboratory Medicine in collaboration with the Department of Pediatrics and Child Health, Aga Khan University, Pakistan. Midstream urine was collected in the first half of the day time before noon from the children with ASD diagnosed by a pediatric neurologist based on DSM-5 criteria and TD healthy controls from August 2019 to June 2021. The urine organic acids were analyzed by Gas Chromatography-Mass Spectrometry. To identify potential biomarkers for ASD canonical linear discriminant analysis was carried out for the organic acids, quantified in comparison to an internal standard. RESULTS: A total of 85 subjects were enrolled in the current study. The mean age of the ASD (n = 65) and TD groups (n = 20) was 4.5 ± 2.3 and 6.4 ± 2.2 years respectively with 72.3% males in the ASD group and 50% males in the TD group. Parental consanguinity was 47.7 and 30% in ASD and TD groups, respectively. The common clinical signs noted in children with ASD were developmental delay (70.8%), delayed language skills (66.2%), and inability to articulate sentences (56.9%). Discriminant analysis showed that 3-hydroxyisovalericc, homovanillic acid, adipic acid, suberic acid, and indole acetic were significantly different between ASD and TD groups. The biochemical classification results reveal that 88.2% of cases were classified correctly into ASD& TD groups based on the urine organic acid profiles. CONCLUSION: 3-hydroxy isovaleric acid, homovanillic acid, adipic acid, suberic acid, and indole acetic were good discriminators between the two groups. The discovered potential biomarkers could be valuable for future research in children with ASD.

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10. Liu D, Nanclares C, Simbriger K, Fang K, Lorsung E, Le N, Amorim IS, Chalkiadaki K, Pathak SS, Li J, Gewirtz JC, Jin VX, Kofuji P, Araque A, Orr HT, Gkogkas CG, Cao R. Autistic-like behavior and cerebellar dysfunction in Bmal1 mutant mice ameliorated by mTORC1 inhibition. Molecular psychiatry. 2022.

Although circadian and sleep disorders are frequently associated with autism spectrum disorders (ASD), it remains elusive whether clock gene disruption can lead to autistic-like phenotypes in animals. The essential clock gene Bmal1 has been associated with human sociability and its missense mutations are identified in ASD. Here we report that global Bmal1 deletion led to significant social impairments, excessive stereotyped and repetitive behaviors, as well as motor learning disabilities in mice, all of which resemble core behavioral deficits in ASD. Furthermore, aberrant cell density and immature morphology of dendritic spines were identified in the cerebellar Purkinje cells (PCs) of Bmal1 knockout (KO) mice. Electrophysiological recordings uncovered enhanced excitatory and inhibitory synaptic transmission and reduced firing rates in the PCs of Bmal1 KO mice. Differential expression of ASD- and ataxia-associated genes (Ntng2, Mfrp, Nr4a2, Thbs1, Atxn1, and Atxn3) and dysregulated pathways of translational control, including hyperactivated mammalian target of rapamycin complex 1 (mTORC1) signaling, were identified in the cerebellum of Bmal1 KO mice. Interestingly, the antidiabetic drug metformin reversed mTORC1 hyperactivation and alleviated major behavioral and PC deficits in Bmal1 KO mice. Importantly, conditional Bmal1 deletion only in cerebellar PCs was sufficient to recapitulate autistic-like behavioral and cellular changes akin to those identified in Bmal1 KO mice. Together, these results unveil a previously unidentified role for Bmal1 disruption in cerebellar dysfunction and autistic-like behaviors. Our findings provide experimental evidence supporting a putative role for dysregulation of circadian clock gene expression in the pathogenesis of ASD.

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11. Liu X, Lin J, Zhang H, Khan NU, Zhang J, Tang X, Cao X, Shen L. Oxidative Stress in Autism Spectrum Disorder-Current Progress of Mechanisms and Biomarkers. Frontiers in psychiatry. 2022; 13: 813304.

Autism spectrum disorder (ASD) is a type of neurodevelopmental disorder that has been diagnosed in an increasing number of children around the world. Existing data suggest that early diagnosis and intervention can improve ASD outcomes. However, the causes of ASD remain complex and unclear, and there are currently no clinical biomarkers for autism spectrum disorder. More mechanisms and biomarkers of autism have been found with the development of advanced technology such as mass spectrometry. Many recent studies have found a link between ASD and elevated oxidative stress, which may play a role in its development. ASD is caused by oxidative stress in several ways, including protein post-translational changes (e.g., carbonylation), abnormal metabolism (e.g., lipid peroxidation), and toxic buildup [e.g., reactive oxygen species (ROS)]. To detect elevated oxidative stress in ASD, various biomarkers have been developed and employed. This article summarizes recent studies about the mechanisms and biomarkers of oxidative stress. Potential biomarkers identified in this study could be used for early diagnosis and evaluation of ASD intervention, as well as to inform and target ASD pharmacological or nutritional treatment interventions.

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12. Ma Z, Eaton M, Liu Y, Zhang J, Chen X, Tu X, Shi Y, Que Z, Wettschurack K, Zhang Z, Shi R, Chen Y, Kimbrough A, Lanman NA, Schust L, Huang Z, Yang Y. Deficiency of autism-related Scn2a gene in mice disrupts sleep patterns and circadian rhythms. Neurobiology of disease. 2022; 168: 105690.

Autism spectrum disorder (ASD) affects ~2% of the population in the US, and monogenic forms of ASD often result in the most severe manifestation of the disorder. Recently, SCN2A has emerged as a leading gene associated with ASD, of which abnormal sleep pattern is a common comorbidity. SCN2A encodes the voltage-gated sodium channel Na(V)1.2. Predominantly expressed in the brain, Na(V)1.2 mediates the action potential firing of neurons. Clinical studies found that a large portion of children with SCN2A deficiency have sleep disorders, which severely impact the quality of life of affected individuals and their caregivers. The underlying mechanism of sleep disturbances related to Na(V)1.2 deficiency, however, is not known. Using a gene-trap Scn2a-deficient mouse model (Scn2a(trap)), we found that Scn2a deficiency results in increased wakefulness and reduced non-rapid-eye-movement (NREM) sleep. Brain region-specific Scn2a deficiency in the suprachiasmatic nucleus (SCN) containing region, which is involved in circadian rhythms, partially recapitulates the sleep disturbance phenotypes. At the cellular level, we found that Scn2a deficiency disrupted the firing pattern of spontaneously firing neurons in the SCN region. At the molecular level, RNA-sequencing analysis revealed differentially expressed genes in the circadian entrainment pathway including core clock genes Per1 and Per2. Performing a transcriptome-based compound discovery, we identified dexanabinol (HU-211), a putative glutamate receptor modulator, that can partially reverse the sleep disturbance in mice. Overall, our study reveals possible molecular and cellular mechanisms underlying Scn2a deficiency-related sleep disturbances, which may inform the development of potential pharmacogenetic interventions for the affected individuals.

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13. Milosevic S, Brookes-Howell L, Randell E, Williams-Thomas R, Delport S, Busse M, Gillespie D, Ahuja AS, McKigney AM, Glarou E, McNamara R. Understanding the support experiences of families of children with autism and sensory processing difficulties: A qualitative study. Health expectations : an international journal of public participation in health care and health policy. 2022.

BACKGROUND: Support, such as information, advice and therapies, can play a vital role in the lives of families of autistic children. However, little is known about the support experiences of UK parents and carers. AIM: To explore experiences of and access to support for families of children with autism and sensory processing difficulties, from the perspective of parents and carers. METHODS: Semi-structured, timeline-assisted interviews were conducted with parents/carers of 30 children aged 5-11, exploring experiences of support. Framework analysis was used to identify themes in the interview data. RESULTS: Support varied widely and was not accessed equitably. Specialist autism support, together with support from other parents and voluntary organizations, was perceived as more useful than statutory and nonspecialist provision. Unmet support needs included an ongoing point of contact for information and advice for parents, and access to direct therapy and specialist mental health provision for children. CONCLUSIONS: Findings emphasize the need for a clear pathway of support following autism diagnosis, autism-specific training for professional service providers and specialist provision tailored to the needs of autistic children. PATIENT OR PUBLIC CONTRIBUTION: An advisory group of four parents of children with autism provided feedback on study procedures and materials, including participant information sheets and timeline completion instructions.

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14. Pretorius IM. [Developmental Disturbance or Autistic Spectrum Disorder? Early Intervention in a Psychotherapeutic Parent-Toddler Group]. Praxis der Kinderpsychologie und Kinderpsychiatrie. 2022; 71(3): 245-60.

Starting in Vienna in the 1920s, Anna Freud’s first tentative attempts at observing children became a crucial component of the « double approach » which integrated direct child observation with psychoanalytic reconstruction. This enabled the detailed study of unfolding developmental processes and the construction of a theory of normative as well as pathological child development. Her identification of disturbances that were developmental rather than neurotic led to the broadening of child analysis. Interventions aimed at freeing and supporting development rather giving insight, became known as « developmental therapy ».These interventions are used in the parent-toddler groups that embody Anna Freud’s endeavour to link psychoanalytic theory, direct observation and clinical practice. Observations of a toddler who attended a psychotherapeutic parent-toddler group with his mother, show how intervening early in the child’s life and soon after concerns were identified, contributed to preventing maladaptive affective states and ways of relating from becoming entrenched.

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15. Prieto LA, Meera B, Katz H, Columna L. A Feasibility Trial for Virtual Administration of the Test of Gross Motor Development-3 for Children With Autism Spectrum Disorders During the COVID-19 Pandemic. Adapted physical activity quarterly : APAQ. 2022: 1-10.

The Test of Gross Motor Development-3 is one of the most popular assessment tools in physical education and physical activity settings. It is a valid assessment originally designed to administer in-person, but the virtual administration of the assessment has yet to be deemed feasible. Thus, the purpose of this study was to explore the trial feasibility of virtual data collection using the Test of Gross Motor Development-3 to assess the fundamental motor skills of children with autism spectrum disorder. Most specifically, we report on the design and feasibility of the online assessment process. A total of 22 families of children with autism spectrum disorder participated in the online data collection.

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16. Rieth SR, Dickson KS, Ko J, Haine-Schlagel R, Gaines K, Brookman-Frazee L, Stahmer AC. Provider perspectives and reach of an evidence-based intervention in community services for toddlers. Autism : the international journal of research and practice. 2022; 26(3): 628-39.

Expert recommendations for toddlers who are likely to develop autism include caregivers being actively involved in the services children receive. However, many services available in the community may not follow these recommendations. Evidence suggests that an intervention named Project ImPACT for Toddlers demonstrates positive parent and child outcomes for families in the community. Project ImPACT for Toddlers was designed specifically for toddlers by a group of parents, clinicians, researchers, and funders. It teaches parents of young children strategies to support their child’s development in daily routines. This study reports the perspectives of early intervention providers who learned to use Project ImPACT for Toddlers on whether the intervention was a good fit for their practice and easy to use. The study also examines how many agencies are using Project ImPACT for Toddlers and how many families have received the intervention in the community. The goal of the study is to inform the continued use of Project ImPACT for Toddlers in the community and support offering the intervention in other regions. Participants include 38 community providers who participated in a training study of Project ImPACT for Toddlers and completed a survey and semi-structured interview after approximately 3 months of using Project ImPACT for Toddlers with families. Participants perceived the training model as acceptable and appropriate, and identified the group-based model of training, comprehensive materials, and agency support as strengths of the approach. Survey findings complemented the results from the interviews. Data indicate an increasing number of agencies and families accessing Project ImPACT for Toddlers. Efforts to expand evidence-based intervention in early intervention should continue to build upon the model used for Project ImPACT for Toddlers.

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17. Romero-González M, Navas-Sánchez P, Marín-Gámez E, Barbancho-Fernández MA, Fernández-Sánchez VE, Lara-Muñoz JP, Guzmán-Parra J. EEG abnormalities and clinical phenotypes in pre-school children with autism spectrum disorder. Epilepsy & behavior : E&B. 2022; 129: 108619.

BACKGROUND: Abnormalities on electroencephalography (EEG) results have been reported in a high percentage of children with Autism Spectrum Disorder (ASD). The purpose of this study was to explore the prevalence of EEG abnormalities in a clinical population of pre-school children with Autism Spectrum Disorder and the differences in terms of the following phenotypic characteristics: adaptive behavior, executive functioning, severity of Autism Spectrum Disorder core symptoms, and comorbidity symptoms. METHODS: A cross-sectional analysis of 69 children who attended the Autism Spectrum Disorder early diagnosis program with electroencephalography and clinical diagnosis was performed. A battery of questionnaires was also made to parents to evaluate emotions, behavior, and functional skills for daily living. RESULTS: Out of 69 pre-school children with Autism Spectrum Disorder, twenty nine (42%) had abnormalities in electroencephalography results. The group with abnormal epileptiform electroencephalography exhibited more impairment in executive functioning and social-relationship coexisting symptoms. CONCLUSIONS: The presence of an abnormal epileptiform electroencephalography in pre-school children with ASD already suggests a worse development in clinical features.

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18. Tascini G, Dell’Isola GB, Mencaroni E, Di Cara G, Striano P, Verrotti A. Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review. Frontiers in neurology. 2022; 13: 817195.

Rett Syndrome (RTT) is a rare and severe X-linked developmental brain disorder that occurs primarily in females, with a ratio of 1:10.000. De novo mutations in the Methyl-CpG Binding protein 2 (MECP2) gene on the long arm of X chromosome are responsible for more than 95% cases of classical Rett. In the remaining cases (atypical Rett), other genes are involved such as the cyclin-dependent kinase-like 5 (CDKL5) and the forkhead box G1 (FOXG1). Duplications of the MECP2 locus cause MECP2 duplication syndrome (MDS) which concerns about 1% of male patients with intellectual disability. Sleep disorders are common in individuals with intellectual disability, while the prevalence in children is between 16 and 42%. Over 80% of individuals affected by RTT show sleep problems, with a higher prevalence in the first 7 years of life and some degree of variability in correlation to age and genotype. Abnormalities in circadian rhythm and loss of glutamate homeostasis play a key role in the development of these disorders. Sleep disorders, epilepsy, gastrointestinal problems characterize CDKL5 Deficiency Disorder (CDD). Sleep impairment is an area of overlap between RTT and MECP2 duplication syndrome along with epilepsy, regression and others. Sleep dysfunction and epilepsy are deeply linked. Sleep deprivation could be an aggravating factor of epilepsy and anti-comitial therapy could interfere in sleep structure. Epilepsy prevalence in atypical Rett syndrome with severe clinical phenotype is higher than in classical Rett syndrome. However, RTT present a significant lifetime risk of epilepsy too. Sleep disturbances impact on child’s development and patients’ families and the evidence for its management is still limited. The aim of this review is to analyze pathophysiology, clinical features, the impact on other comorbidities and the management of sleep disorders in Rett syndrome and Rett-related syndrome.

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