1. Brown H, Swain D, Kim HW, Rogers S, Estes A, Kasari C, Lord C, Kim SH. Examining variability in Naturalistic Developmental Behavioral Intervention strategy use in caregivers of children with autism spectrum disorders. J Child Psychol Psychiatry. 2024.

BACKGROUND: Naturalistic Developmental Behavioral Interventions (NDBIs) for young children with autism spectrum disorder commonly involve caregiver-mediated approaches. However, to date, there is limited research on how caregivers’ skills change, and, in turn, impact child outcomes. METHODS: We evaluated the NDBI strategy use of 191 caregivers prior to participation in NDBIs (or control groups) across multiple randomized controlled trials, using the Measure of NDBI Strategy Implementation, Caregiver Change (MONSI-CC). Clustering analyses were used to examine caregiver variability in NDBI strategy use at intervention entry. Generalized Linear Mixed Models were used to examine changes in caregiver strategy use over the course of intervention and its impact on changes in children’s social communication. RESULTS: Using clustering analysis, we found that caregivers’ baseline skills fit four profiles: limited, emerging, variable, and consistent/high, with few demographic factors distinguishing these groups. Caregivers starting with limited or emerging skills improved in their strategy use with intervention. Caregivers starting with more skills (consistent/high or variable) maintained higher skills over intervention. Children of caregivers in these groups who received target NDBIs improved in their social communication skills. CONCLUSIONS: Results suggested that caregiver skills improve through participation in NDBIs and may directly contribute to their children’s outcomes, although more research on mediating factors is needed. Individualized approaches for caregivers and their children starting with differing skill profiles at intervention entry may be warranted.

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2. Croom K, Rumschlag JA, Erickson MA, Binder D, Razak KA. Sex differences during development in cortical temporal processing and event related potentials in wild-type and fragile X syndrome model mice. J Neurodev Disord. 2024; 16(1): 24.

BACKGROUND: Autism spectrum disorder (ASD) is currently diagnosed in approximately 1 in 44 children in the United States, based on a wide array of symptoms, including sensory dysfunction and abnormal language development. Boys are diagnosed ~ 3.8 times more frequently than girls. Auditory temporal processing is crucial for speech recognition and language development. Abnormal development of temporal processing may account for ASD language impairments. Sex differences in the development of temporal processing may underlie the differences in language outcomes in male and female children with ASD. To understand mechanisms of potential sex differences in temporal processing requires a preclinical model. However, there are no studies that have addressed sex differences in temporal processing across development in any animal model of ASD. METHODS: To fill this major gap, we compared the development of auditory temporal processing in male and female wildtype (WT) and Fmr1 knock-out (KO) mice, a model of Fragile X Syndrome (FXS), a leading genetic cause of ASD-associated behaviors. Using epidural screw electrodes, we recorded auditory event related potentials (ERP) and auditory temporal processing with a gap-in-noise auditory steady state response (ASSR) paradigm at young (postnatal (p)21 and p30) and adult (p60) ages from both auditory and frontal cortices of awake, freely moving mice. RESULTS: The results show that ERP amplitudes were enhanced in both sexes of Fmr1 KO mice across development compared to WT counterparts, with greater enhancement in adult female than adult male KO mice. Gap-ASSR deficits were seen in the frontal, but not auditory, cortex in early development (p21) in female KO mice. Unlike male KO mice, female KO mice show WT-like temporal processing at p30. There were no temporal processing deficits in the adult mice of both sexes. CONCLUSIONS: These results show a sex difference in the developmental trajectories of temporal processing and hypersensitive responses in Fmr1 KO mice. Male KO mice show slower maturation of temporal processing than females. Female KO mice show stronger hypersensitive responses than males later in development. The differences in maturation rates of temporal processing and hypersensitive responses during various critical periods of development may lead to sex differences in language function, arousal and anxiety in FXS.

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3. do Amaral COF, Kantovitiz KR, de Araújo VC, Marega T, Teixeira LN, Martinez EF. Assessment of dental and periodontal indices and Streptococcus mutans virulence in fragile X syndrome patients. J Intellect Disabil Res. 2024.

INTRODUCTION: Fragile X syndrome (FXS) is the most common cause of hereditary genetic disorder in a single gene characterised by intellectual disability. Behavioural features such as autism, hyperactivity and anxiety disorder may be present. Biofilm development and pathogenicity of Streptococcus mutans may be altered because FXS renders the dental approach and oral hygiene more complex. OBJECTIVES: The purpose of this study was to compare the levels of transcripts for VicRK and CovR of S. mutans isolated from FXS patients with the levels of transcripts for VicRK and CovR of standard strain ATCC, using a quantitative polymerase chain reaction (qPCR). METHODS: The caries experience index was assessed by the International Caries Detection and Assessment System (ICDAS), Periodontal Condition Index (PCI) and Invasive Dental Treatment Need Index (INI). RESULTS: The clinical index findings revealed a high rate of caries cavities and bleeding on probing of FXS patients. When VicRK and CovR transcript levels were compared with the reference strain, Fragile X patients were found to have significantly higher values. CONCLUSION: The present study demonstrated that FXS patients have more adverse clinical conditions, with increased biofilm accumulation and virulence. When combined with behavioural abnormalities, these patients become even more vulnerable to dental caries.

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4. Fu Y, Xie GM, Liu RQ, Xie JL, Zhang J, Zhang J. From aberrant neurodevelopment to neurodegeneration: Insights into the hub gene associated with autism and alzheimer’s disease. Brain Res. 2024: 148992.

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5. Garcia-Molina I. « When I need help, I ask my friends »: experiences of Spanish autistic women when disclosing their late diagnosis to family and friends. Front Psychol. 2024; 15: 1342352.

Family and friends may play an important role both in the identification and diagnosis of any condition, as well as in the provision of support afterwards. However, when the diagnosis is autism and it arrives late, as is often the case with autistic women, we find the double stigma of experiencing the repercussions of a late diagnosis, along with the disbelief of those closest to them. This study aims to analyse and understand the experiences of autistic women with their family and friends throughout the diagnostic process and subsequent help-seeking endeavors. A total of 21 Spanish autistic women aged between 20 and 58 years answered a series of open-ended questions-respecting the participants’ preferred modality. From the thematic analysis, two main themes emerged regarding the reactions of family and friends, dividing the experiences into two temporal phases: when disclosing the diagnosis and sometime later. Most participants noted that their relatives did not believe them, reacted in a hostile way, or did not give it any importance at the time of disclosure. As a result, their relationship deteriorated even further over time. In contrast, their friends served as pillars of support from the beginning, along with their partners and the associations they attended, because of which they met more autistic women who became their « family ». Thus, another consequence of late diagnosis in autistic women is highlighted, the incomprehension or disbelief from their relatives, and the important role of friendships among women and among autistic women.

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6. Genova HM, Elsayed HE, Haas M, Parrott D, Krch D, Dacanay M, Smith MJ. A Combined Interventional Approach to Train Interview Skills in Autistic Transition-Age Youth. J Autism Dev Disord. 2024.

BACKGROUND: The job interview can be challenging for autistic adolescents considering the required social communication skills. Further, having decreased awareness of personal strengths may make it difficult to advocate for oneself to a future employer. The purpose of the current pilot randomized controlled trial (RCT) is to examine the preliminary efficacy and feasibility of a combined interventional approach using: the Virtual Interview Tool for Autistic Transition-Age Youth (VIT-TAY) and Kessler Foundation Strength Identification and Expression (KF-STRIDE). METHOD: Twenty autistic transition-age youth (TAY) were randomly assigned to two groups: an intervention group (n = 10) that received 9 h of VIT-TAY (interviewing practice with a virtual human), and three lessons of KF-STRIDE (positive psychology intervention to learn and discuss one’s personal character strengths) and a services-as-usual (SAU) group (n = 10). The primary outcome was measured using a video-recorded mock job interview performed at pre- and post-test, which was rated by blinded assessors. Secondary outcomes included self-reports of job interview skill, interview anxiety, work readiness and recent job search behavior. RESULTS: Paired samples t-tests revealed significant differences between pre- and post-test in the intervention group (but not the control group) on the mock interview total score (p = 0.02, d = 0.76) and self-reported job interview skills total score (p = 0.02, d = 0.75). The intervention group (but not the control group) had improvements in work-readiness (p = 0.06, d = 0.53) and job search behavior (p = 0.07, d = 0.52) that were characterized by medium effect sizes. CONCLUSIONS: This pilot study suggests that combining VIT-TAY with KF-STRIDE leads to improvements in performance-based and self-reported job interview skills.

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7. Hazan S, Haroon J, Jordan S, Walker SJ. Improvements in Gut Microbiome Composition and Clinical Symptoms Following Familial Fecal Microbiota Transplantation in a Nineteen-Year-Old Adolescent With Severe Autism. J Med Cases. 2024; 15(4-5): 82-91.

This case report describes a novel therapy for patients with severe autism spectrum disorder (ASD) that is worth further investigation. A 19-year-old male adolescent with ASD, who was not responding to standard treatment received fecal microbiota transplant (FMT) using donor material from his typically developing female sibling. The patient’s ASD symptoms were assessed by assessors who were blind to the patient’s past ASD symptomatology. Assessors used the Childhood Autism Rating Scale (CARS), an observation-based rating scale to assess developmental delay in children with autism (range of CARS scores is 15 – 60; a score > 28 is indicative of autism; higher score is positively correlated with degree of severity), at baseline and again at six timepoints post-FMT. The patient experienced marked improvements in microbiome diversity and composition over the year and a half period that followed the FMT procedure. Additionally, the patient who was previously nonverbal said his first two words and experienced a reduction in aggression 1-month post-FMT. To the authors’ knowledge, this is the first report to demonstrate the use of familial FMT in an adolescent patient with ASD. Given that ASD symptom improvements post-FMT tend to occur in younger patients, the authors hypothesize that the use of a familial donor may be an important factor that contributed to the improved outcomes experienced by this older child.

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8. Kang R, Kim K, Jung Y, Choi SH, Lee C, Im GH, Shin M, Ryu K, Choi S, Yang E, Shin W, Lee S, Lee S, Papadopoulos Z, Ahn JH, Koh GY, Kipnis J, Kang H, Kim H, Cho WK, Park S, Kim SG, Kim E. Loss of Katnal2 leads to ependymal ciliary hyperfunction and autism-related phenotypes in mice. PLoS Biol. 2024; 22(5): e3002596.

Autism spectrum disorders (ASD) frequently accompany macrocephaly, which often involves hydrocephalic enlargement of brain ventricles. Katnal2 is a microtubule-regulatory protein strongly linked to ASD, but it remains unclear whether Katnal2 knockout (KO) in mice leads to microtubule- and ASD-related molecular, synaptic, brain, and behavioral phenotypes. We found that Katnal2-KO mice display ASD-like social communication deficits and age-dependent progressive ventricular enlargements. The latter involves increased length and beating frequency of motile cilia on ependymal cells lining ventricles. Katnal2-KO hippocampal neurons surrounded by enlarged lateral ventricles show progressive synaptic deficits that correlate with ASD-like transcriptomic changes involving synaptic gene down-regulation. Importantly, early postnatal Katnal2 re-expression prevents ciliary, ventricular, and behavioral phenotypes in Katnal2-KO adults, suggesting a causal relationship and a potential treatment. Therefore, Katnal2 negatively regulates ependymal ciliary function and its deletion in mice leads to ependymal ciliary hyperfunction and hydrocephalus accompanying ASD-related behavioral, synaptic, and transcriptomic changes.

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9. Lederman VRG, Goulart AL, Negrão JG, Schwartzman JS. Visual scanning of social stimuli in preterm and autism spectrum disorder children. Rev Paul Pediatr. 2024; 42: e2023017.

OBJECTIVE: To evaluate the pattern of eye-gaze of preterm (PT), autism spectrum disorder (ASD) and neurotypical (Ty) children. METHODS: A cross-sectional study with eight preterm (born with ≤2000 g weight), nine ASD and five Ty male children, between six and nine years old, was performed. The eye gaze was evaluated presenting a board with a couple in social interaction, and a video with four children playing with blocks, projected in a screen computer, successively, evaluating the time that the children looked at each stimulus. RESULTS: Although all the groups focus on the central social figure with no significant differences, ASD presented significant differences in time fixation of the objects (p=0.021), while premature children fixated more time in the central social interaction than in the whole scene than typical children. CONCLUSIONS: Although this study found noteworthy differences in the eye-gaze patterns among the three groups, additional research with a more extensive participant pool is necessary to validate these preliminary results.

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10. Long J, Li H, Liu Y, Liao X, Tang Z, Han K, Chen J, Zhang H. Insights into the structure and function of the hippocampus: implications for the pathophysiology and treatment of autism spectrum disorder. Front Psychiatry. 2024; 15: 1364858.

The hippocampus is one of the brain areas affected by autism spectrum disorder (ASD). Individuals with ASD typically have impairments in hippocampus-dependent learning, memory, language ability, emotional regulation, and cognitive map creation. However, the pathological changes in the hippocampus that result in these cognitive deficits in ASD are not yet fully understood. In the present review, we will first summarize the hippocampal involvement in individuals with ASD. We will then provide an overview of hippocampal structural and functional abnormalities in genetic, environment-induced, and idiopathic animal models of ASD. Finally, we will discuss some pharmacological and non-pharmacological interventions that show positive impacts on the structure and function of the hippocampus in animal models of ASD. A further comprehension of hippocampal aberrations in ASD might elucidate their influence on the manifestation of this developmental disorder and provide clues for forthcoming diagnostic and therapeutic innovation.

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11. Loureiro F, Ringold SM, Aziz-Zadeh L. Interoception in Autism: A Narrative Review of Behavioral and Neurobiological Data. Psychol Res Behav Manag. 2024; 17: 1841-53.

While exteroceptive sensory processing is a hallmark of autism spectrum disorder, how interoceptive processing may impact and contribute to symptomatology remains unclear. In this comprehensive narrative review on interoception in autism, we discuss: 1) difficulties with assessing interoception; 2) potential interoceptive differences; 3) interactions between neural systems for interoception, attention, sensorimotor processing, and cognition; and 4) potential differences in neural circuits involved in interoception. In general, there are mixed findings on potential interoception differences in autism. Nevertheless, some data indicate differences in integration of interoceptive and exteroceptive information may contribute to autism symptomatology. Neurologically, interoceptive processing in autism may be impacted by potential differences in the development, morphometry, and connectivity of key interoceptive hubs (vagal processing, brainstem, thalamus, insula), though much work is needed on this topic.

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12. Opoku MP, Mohamed A, Safi M, Belbase S, Al Mughairbi F, Xie Q, Al Shatheli M. Mothers’ evaluations of fathers’ contributions to raising children with autism spectrum disorder in the United Arab Emirates. BMC Psychol. 2024; 12(1): 253.

BACKGROUND: Autism spectrum disorder (ASD) is a lifelong neurological condition which results in social skill deficits, communication difficulties, and restrictive and repetitive behaviour. The difficulties associated with parenting children with ASD have been studied extensively, mainly from the perspectives of mothers. The extent of involvement of fathers in the raising of children with ASD has received limited scholarly attention, especially in non-Western contexts such as the United Arab Emirates. OBJECTIVES: This study asked mothers to evaluate the involvement of fathers in the development of children with ASD. METHODS: In all, 240 mothers completed the Fathers’ Involvement in Development and Rehabilitation Scale, designed based on a review of literature on the construct of involvement, namely attitude, participation in training, and support domains. The data were subjected to computation of mean scores, multivariate analysis of variance, hierarchical regression, and moderation analyses. RESULTS: The results suggested that fathers held positive attitudes and provided substantial support to their children with ASD. However, mothers were ambivalent regarding the participation of fathers in training to support the development of their children. Differences were also observed between participants according to marital status, location, child gender, and ASD severity. CONCLUSION: Recommendations for targeted training for fathers and other study implications are discussed.

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13. Paynter J, Heng V, Tucker M, Malone S. A Longitudinal Analysis of Mothers’ Parenting Stress and Internalizing and Externalizing Behavior of Young Children on the Autism Spectrum. J Autism Dev Disord. 2024.

We investigated longitudinal relations between internalizing, externalizing, and total behaviors that challenge in young children on the autism spectrum and mothers’ parenting stress. Participants included 93 mothers of children on the autism spectrum aged 27.89-65.84 months, who completed questionnaires on maternal parenting stress, and children’s internalizing (anxiety), externalizing (disruptive), and total behaviors that challenge. Data were collected on early intervention program intake and approximately one year later. Cross-sectional findings indicated small to medium effect size associations between internalizing and externalizing behavior and parenting stress. However, cross-lagged structural equation models found that neither internalizing nor externalizing behavior predicted later parenting stress, nor the reverse. Significant stability effects were found for measures of child internalizing (anxiety), externalizing (disruptive), and total behaviors, and parenting stress. Relations between behaviors that challenge and parenting stress over time were non-significant in our models that controlled for stability of behaviors and parenting stress over time. Implications for research and clinical practice, in understanding and targeting the persistence of behaviors that challenge and parenting stress, are discussed.

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14. Peterson M, Prigge MBD, Floris DL, Bigler ED, Zielinski BA, King JB, Lange N, Alexander AL, Lainhart JE, Nielsen JA. Reduced lateralization of multiple functional brain networks in autistic males. J Neurodev Disord. 2024; 16(1): 23.

BACKGROUND: Autism spectrum disorder has been linked to a variety of organizational and developmental deviations in the brain. One such organizational difference involves hemispheric lateralization, which may be localized to language-relevant regions of the brain or distributed more broadly. METHODS: In the present study, we estimated brain hemispheric lateralization in autism based on each participant’s unique functional neuroanatomy rather than relying on group-averaged data. Additionally, we explored potential relationships between the lateralization of the language network and behavioral phenotypes including verbal ability, language delay, and autism symptom severity. We hypothesized that differences in hemispheric asymmetries in autism would be limited to the language network, with the alternative hypothesis of pervasive differences in lateralization. We tested this and other hypotheses by employing a cross-sectional dataset of 118 individuals (48 autistic, 70 neurotypical). Using resting-state fMRI, we generated individual network parcellations and estimated network asymmetries using a surface area-based approach. A series of multiple regressions were then used to compare network asymmetries for eight significantly lateralized networks between groups. RESULTS: We found significant group differences in lateralization for the left-lateralized Language (d = -0.89), right-lateralized Salience/Ventral Attention-A (d = 0.55), and right-lateralized Control-B (d = 0.51) networks, with the direction of these group differences indicating less asymmetry in autistic males. These differences were robust across different datasets from the same participants. Furthermore, we found that language delay stratified language lateralization, with the greatest group differences in language lateralization occurring between autistic males with language delay and neurotypical individuals. CONCLUSIONS: These findings evidence a complex pattern of functional lateralization differences in autism, extending beyond the Language network to the Salience/Ventral Attention-A and Control-B networks, yet not encompassing all networks, indicating a selective divergence rather than a pervasive one. Moreover, we observed an association between Language network lateralization and language delay in autistic males.

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15. Twito R, Hadad BS, Szpiro S. Is she still angry? Intact learning but no updating of facial expressions priors in autism. Autism Res. 2024.

Autistic people exhibit atypical use of prior information when processing simple perceptual stimuli; yet, it remains unclear whether and how these difficulties in using priors extend to complex social stimuli. Here, we compared autistic people without accompanying intellectual disability and nonautistic people in their ability to acquire an « emotional prior » of a facial expression and update this prior to a different facial expression of the same identity. Participants performed a two-interval same/different discrimination task between two facial expressions. To study the acquisition of the prior, we examined how discrimination was modified by the contraction of the perceived facial expressions toward the average of presented stimuli (i.e., regression to the mean). At first, facial expressions surrounded one average emotional prior (mostly sad or angry), and then the average switched (to mostly angry or sad, accordingly). Autistic people exhibited challenges in facial discrimination, and yet acquired the first prior, demonstrating typical regression-to-the-mean effects. However, unlike nonautistic people, autistic people did not update their perception to the second prior, suggesting they are less flexible in updating an acquired prior of emotional expressions. Our findings shed light on the perception of emotional expressions, one of the most pressing challenges in autism.

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16. Yao PJ, Manolopoulos A, Eren E, Rivera SM, Hessl DR, Hagerman R, Martinez-Cerdeno V, Tassone F, Kapogiannis D. Mitochondrial dysfunction in brain tissues and Extracellular Vesicles Fragile X-associated tremor/ataxia syndrome. Ann Clin Transl Neurol. 2024.

OBJECTIVE: Mitochondrial impairments have been implicated in the pathogenesis of Fragile X-associated tremor/ataxia syndrome (FXTAS) based on analysis of mitochondria in peripheral tissues and cultured cells. We sought to assess whether mitochondrial abnormalities present in postmortem brain tissues of patients with FXTAS are also present in plasma neuron-derived extracellular vesicles (NDEVs) from living carriers of fragile X messenger ribonucleoprotein1 (FMR1) gene premutations at an early asymptomatic stage of the disease continuum. METHODS: We utilized postmortem frozen cerebellar and frontal cortex samples from a cohort of eight patients with FXTAS and nine controls and measured the quantity and activity of the mitochondrial proteins complex IV and complex V. In addition, we evaluated the same measures in isolated plasma NDEVs by selective immunoaffinity capture targeting L1CAM from a separate cohort of eight FMR1 premutation carriers and four age-matched controls. RESULTS: Lower complex IV and V quantity and activity were observed in the cerebellum of FXTAS patients compared to controls, without any differences in total mitochondrial content. No patient-control differences were observed in the frontal cortex. In NDEVs, FMR1 premutation carriers compared to controls had lower activity of Complex IV and Complex V, but higher Complex V quantity. INTERPRETATION: Quantitative and functional abnormalities in mitochondrial electron transport chain complexes IV and V seen in the cerebellum of patients with FXTAS are also manifest in plasma NDEVs of FMR1 premutation carriers. Plasma NDEVs may provide further insights into mitochondrial pathologies in this syndrome and could potentially lead to the development of biomarkers for predicting symptomatic FXTAS among premutation carriers and disease monitoring.

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17. Zhao W, Li L, Yang X, Wang X, Kou J, Chen J, Chen H, Wang Q, Duan X. Brain development of a school-aged boy with autism spectrum condition talented in arithmetic: a case report. Psychoradiology. 2024; 4: kkae008.

Whereas autism spectrum condition is known for its social and communicative challenges, some autistic children demonstrate unusual islets of abilities including those related to mathematics, the neurobiological underpinnings of which are increasingly becoming the focus of research. Here we describe an 8-year-old autistic boy with intellectual and language challenges, yet exceptional arithmetic ability. He can perform verbal-based multiplication of three- and even four-digit numbers within 20 seconds. To gain insights into the neural basis of his talent, we investigated the gray matter in the child’s brain in comparison to typical development, applying voxel-based morphometry to magnetic resonance imaging data. The case exhibited reduced gray matter volume in regions associated with arithmetic, which may suggest an accelerated development of brain regions with arithmetic compared to typically developing individuals: potentially a key factor contributing to his exceptional talent. Taken together, this case report describes an example of the neurodiversity of autism. Our research provides valuable insights into the potential neural basis of exceptional arithmetic abilities in individuals with the autism spectrum and its potential contribution to depicting the diversity and complexity of autism.

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18. Zhong S, Liu J, Lian Y, Zhou B, Wang X, Ding J. Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report. BMC Neurol. 2024; 24(1): 154.

BACKGROUND: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by CGG repeat expansion of FMR1 gene. Both FXTAS and neuronal intranuclear inclusion disease (NIID) belong to polyglycine diseases and present similar clinical, radiological, and pathological features, making it difficult to distinguish these diseases. Reversible encephalitis-like attacks are often observed in NIID. It is unclear whether they are presented in FXTAS and can be used for differential diagnosis of NIID and FXTAS. CASE PRESENTATION: A 63-year-old Chinese male with late-onset gait disturbance, cognitive decline, and reversible attacks of fever, consciousness impairment, dizziness, vomiting, and urinary incontinence underwent neurological assessment and examinations, including laboratory tests, electroencephalogram test, imaging, skin biopsy, and genetic test. Brain MRI showed T2 hyperintensities in middle cerebellar peduncle and cerebrum, in addition to cerebellar atrophy and DWI hyperintensities along the corticomedullary junction. Lesions in the brainstem were observed. Skin biopsy showed p62-positive intranuclear inclusions. The possibilities of hypoglycemia, lactic acidosis, epileptic seizures, and cerebrovascular attacks were excluded. Genetic analysis revealed CGG repeat expansion in FMR1 gene, and the number of repeats was 111. The patient was finally diagnosed as FXTAS. He received supportive treatment as well as symptomatic treatment during hospitalization. His encephalitic symptoms were completely relieved within one week. CONCLUSIONS: This is a detailed report of a case of FXTAS with reversible encephalitis-like episodes. This report provides new information for the possible and rare features of FXTAS, highlighting that encephalitis-like episodes are common in polyglycine diseases and unable to be used for differential diagnosis.

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