1. Cao J, Zhu AY, Mireskandari K. Neurotrophic keratopathy following laser retinopexy for high myopia in an autistic child. Canadian journal of ophthalmology Journal canadien d’ophtalmologie. 2022; 57(1): e24-e7.

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2. Cerdan Chiscano M. Autism Spectrum Disorder (ASD) and the Family Inclusive Airport Design Experience. International journal of environmental research and public health. 2021; 18(13).

The literature on air travellers with psychiatric disorders is limited. This perspective article highlights various travel-related aspects of autism spectrum disorder (ASD). The airport experience can be stressful for families of children with autism spectrum disorder (FwASDs). The aim of this study was to explore the airport experience of FwASDs using the value co-creation process approach to assist airport managers in designing improved experiences for this specific passenger segment. This study responds to the current climate in which airports are developing awareness programmes in relation to children who require special assistance at airports. The prevalence of children with ASD is 1/68. While a number of airports throughout the world have adopted procedures addressing the needs of those with cognitive impairment, these advances are far from universal. As part of an academic-industry collaboration between Vueling airlines and the Spanish airport operator Aena, 25 FwASDs took part in an inclusive airport research project in the city of Barcelona from November 2015 to April 2016. Employing a qualitative methodology that incorporated focus groups, ethnographic techniques, and post-experience surveys, the study contributes to extending the body of knowledge on the management of the value co-creation process for challenging passenger segments within the airport context. The study explains how ensuring adequate resource allocation to this passenger segment can improve the family-inclusive design of the airport experience and offers managerial recommendations.

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3. Dean EE, Kirby AV, Hagiwara M, Shogren KA, Ersan DT, Brown S. Family Role in the Development of Self-Determination for Youth With Intellectual and Developmental Disabilities: A Scoping Review. Intellectual and developmental disabilities. 2021; 59(4): 315-34.

The development of self-determination is promoted by supportive contexts during adolescence; families are a key part of this context. In adolescent populations, research suggests families can support self-determination in a number of ways, yet less is known about how self-determination is promoted within families of youth with intellectual and developmental disabilities (IDD). To address this knowledge gap, we conducted a scoping review to examine the existing evidence pertaining to the role families of youth with IDD play in supporting the development of self-determination. A review of 24 publications revealed that existing research has focused on understanding family perspectives on self-determination, but there is a lack of studies investigating how families provide supports for self-determination in the home context for youth with IDD. Additionally, little intervention work has focused on supporting families to promote self-determination. Based on the findings, implications for future research and practice are provided.

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4. Friedman C, Rizzolo MC. Value-Based Payments: Intellectual and Developmental Disabilities Quality Indicators Associated With Billing Expenditures. Intellectual and developmental disabilities. 2021; 59(4): 295-314.

Although managed care is expanding into the intellectual and developmental disabilities (IDD) service system, there is little agreement about measurable and meaningful outcomes for people with IDD, including for use in value-based payments (VBP). In this study, we examined potential VBP metrics for people with IDD-relationships between quality and costs. We analyzed Basic Assurances data and long-term services and supports billing data from 68 human service organizations that supported 6,608 people with IDD. Our final hierarchical regression model predicted 66.40% of the variance of annual long-term services and supports (LTSS) billing per person. Our findings suggest quality assurance indicators can account for a significant portion of cost variance-quality metrics represent a potential for cost savings and efficient service delivery.

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5. Hung PL, Wu KLH, Chen CJ, Siu KK, Hsin YJ, Wang LJ, Wang FS. Music-Based Intervention Ameliorates Mecp2-Loss-Mediated Sociability Repression in Mice through the Prefrontal Cortex FNDC5/BDNF Pathway. International journal of molecular sciences. 2021; 22(13).

Patients with Rett syndrome (RTT) show severe difficulties with communication, social withdrawl, and learning. Music-based interventions improve social interaction, communication skills, eye contact, and physical skills and reduce seizure frequency in patients with RTT. This study aimed to investigate the mechanism by which music-based interventions compromise sociability impairments in mecp2 (null/y) mice as an experimental RTT model. Male mecp2 (null/y) mice and wild-type mice (24 days old) were randomly divided into control, noise, and music-based intervention groups. Mice were exposed to music or noise for 6 h/day for 3 consecutive weeks. Behavioral patterns, including anxiety, spontaneous exploration, and sociability, were characterized using open-field and three-chamber tests. BDNF, TrkB receptor motif, and FNDC5 expression in the prefrontal cortex (PFC), hippocampus, basal ganglia, and amygdala were probed using RT-PCR or immunoblotting. mecp2 (null/y) mice showed less locomotion in an open field than wild-type mice. The social novelty rather than the sociability of these animals increased following a music-based intervention, suggesting that music influenced the mecp2-deletion-induced social interaction repression rather than motor deficit. Mechanically, the loss of BDNF signaling in the prefrontal cortex and hippocampal regions, but not in the basal ganglia and amygdala, was compromised following the music-based intervention in mecp2 (null/y) mice, whereas TrkB signaling was not significantly changed in either region. FNDC5 expression in the prefrontal cortex region in mecp2 (null/y) mice also increased following the music-based intervention. Collective evidence reveals that music-based interventions improve mecp2-loss-induced social dysfunction. BDNF and FNDC5 signaling in the prefrontal cortex region mediates the music-based-intervention promotion of social interactions. This study gives new insight into the mechanisms underlying the improvement of social behaviors in mice suffering from experimental Rett syndrome following a music-based intervention.

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6. Kheirollahzadeh M, Alizadeh Zarei M, Amini M, Dehghan F. The Relationship of School Participation with Motor Proficiency and Executive Function in Children with Autism Spectrum Disorder. Iranian journal of child neurology. 2021; 15(3): 65-76.

OBJECTIVES: Participation in meaningful activities is an important aspect of development in children with developmental disorders such as autism spectrum disorder (ASD). The purpose of this study was to assess the correlation of school participation with motor proficiency and executive function in children with ASD. MATERIALS & METHODS: In this cross-sectional (descriptive-analytic) study, 52 students aged 6 to 12 years old with ASD were selected through the convenience sampling method. The GARS-2 scale was used to confirm ASD diagnosis. Other psychiatric comorbidities such as ADHA were studied by the CSI-4 tool, and students with comorbidities were excluded. Data were collected using SFA, BOTMP-2, and BRIEF questionnaires. It should be noted that in the BRIEF questionnaire, a higher score indicates a more severe disability. RESULTS: Our findings showed that motor proficiency and its components had a significant direct correlation with school participation in children with ASD (P ≤0.001). On the other hand, school participation was inversely and significantly correlated with the behavioral regulation and metacognition monitoring indices of the executive function dimension (P <0.05). CONCLUSION: Based on the findings of this research, the development of motor proficiency and improvements in the behavioral regulation and metacognition monitoring of students with ASD will boost their participation in school activities. Motor proficiency was significantly correlated with school participation in children with ASD. More attention should be paid to perceptual motor interventions and cognitive rehabilitation programs (with a focus on monitoring metacognition and shifting behavioral regulation) to increase the participation of children with ASD in school activities.

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7. Kuehn BM. New Software Can Aid in Early Autism Spectrum Disorder Diagnosis. Jama. 2021; 326(3): 215.

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8. McGinley J, Marsack-Topolewski CN, Church HL, Knoke V. Advance Care Planning for Individuals With Intellectual and Developmental Disabilities: A State-by-State Content Analysis of Person-Centered Service Plans. Intellectual and developmental disabilities. 2021; 59(4): 352-64.

Older adults are a rapidly growing segment of the intellectual and developmental disabilities (IDD) population. Advance care planning (ACP) is recommended as a best practice for adults with IDD, yet, adoption remains low. For individuals receiving Medicaid services, regular meetings maintain the person-centered planning (PCP) process. Content analysis was used to examine data from public documents across the United States to identify the frequency of ACP in PCP and the ways it manifests. Results indicate most states had evidence of ACP within the PCP process with notable variation to the extent. Findings suggest many PCP documents lack content specific to late-life transitions. Included are examples of the ways states have integrated ACP into PCP that can serve as a guide.

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9. Nakamura Y, Okanishi T, Yamada H, Okazaki T, Hosoda C, Itai T, Miyatake S, Saitsu H, Matsumoto N, Maegaki Y. Progressive cerebral atrophies in three children with COL4A1 mutations. Brain & development. 2021; 43(10): 1033-8.

BACKGROUND: The collagen type IV alpha 1 chain (COL4A1) gene on 13q34 encodes one chain of collagen. COL4A1 mutations have been identified as the cause of a group of multisystemic conditions in humans, including the brain, eyes, kidneys, muscles, and other organs at any age. Brain imaging shows a wide spectrum of abnormalities, including porencephaly, schizencephaly, polymicrogyria focal cortical dysplasia, periventricular leukoencephalopathy, ventricular dysmorphisms, and multiple brain calcifications. However, there are no reports in the literature showing progressive radiological findings in consecutive follow-up scans. Herein, we report three cases of COL4A1 mutations with porencephaly from gestation to five years of age or longer, and describe their clinical and brain imaging findings. CASE REPORTS: We retrospectively reviewed the clinical symptoms and radiological findings, including brain magnetic resonance imaging (MRI) and computed tomography (CT), in three female patients with COL4A1 mutations. Their mutations were c.4843G>A (p.Glu1615Lys), c.1835G>A (p.Gly612Asp), and c.3556+1G>T respectively. All the three cases represented porencephaly in the fetal period; severe hemolytic anemia in the neonatal period; and drug-resistant epilepsy, global developmental delay, and spastic quadriplegia in their childhood. RESULTS: Brain MRI and CT showed progressive white matter atrophy from gestation to five-year follow-up or later. Minor cerebral hemorrhage without symptoms occasionally occurred in one patient. Despite brain changes, the clinical picture was stable during early childhood. CONCLUSIONS: COL4A1 mutations may cause progressive cerebral atrophy beyond early childhood.

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10. Pence AR, Dymond SK. The Participation of Secondary Students With Severe Disabilities in School Clubs. Intellectual and developmental disabilities. 2021; 59(4): 335-51.

The purpose of this study was to examine how secondary students with severe disabilities (i.e., severe intellectual disability or autism, multiple disabilities) participate in extracurricular school clubs. Using a qualitative multiple case design, the experiences of three high school students were examined. Data were collected through interviews, observations, and document reviews. A single-case inductive open-coding strategy was utilized across all data sources in which codes and categories emerged, and a final cross-case thematic evaluation was conducted. The cross-case thematic analysis resulted in the following four overarching themes: (a) going with the flow; (b) social obstacles: on the outside looking in; (c) supports provided: too much, too little, just right; and (d) safety in numbers.

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11. Rechowicz KJ, Shull JB, Hascall MM, Diallo SY, O’Brien KJ. Internet-of-Things Devices in Support of the Development of Echoic Skills among Children with Autism Spectrum Disorder. Sensors (Basel, Switzerland). 2021; 21(13).

A significant therapeutic challenge for people with disabilities is the development of verbal and echoic skills. Digital voice assistants (DVAs), such as Amazon’s Alexa, provide networked intelligence to billions of Internet-of-Things devices and have the potential to offer opportunities to people, such as those diagnosed with autism spectrum disorder (ASD), to advance these necessary skills. Voice interfaces can enable children with ASD to practice such skills at home; however, it remains unclear whether DVAs can be as proficient as therapists in recognizing utterances by a developing speaker. We developed an Alexa-based skill called ASPECT to measure how well the DVA identified verbalization by autistic children. The participants, nine children diagnosed with ASD, each participated in 30 sessions focused on increasing vocalizations and echoic responses. Children interacted with ASPECT prompted by instructions from an Echo device. ASPECT was trained to recognize utterances and evaluate them as a therapist would-simultaneously, a therapist scored the child’s responses. The study identified no significant difference between how ASPECT and the therapists scored participants; this conclusion held even when subsetting participants by a pre-treatment echoic skill assessment score. This indicates considerable potential for providing a continuum of therapeutic opportunities and reinforcement outside of clinical settings.

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12. Romano A, Di Rosa G, Tisano A, Fabio RA, Lotan M. Effects of a remotely supervised motor rehabilitation program for individuals with Rett syndrome at home. Disability and rehabilitation. 2021: 1-11.

PURPOSE: In this study, the effect of a remotely supervised, home-based, family-centered individualized rehabilitation program of motor activities for individuals with Rett syndrome (RTT) was evaluated. MATERIALS AND METHODS: Thirteen participants with classic genetically confirmed RTT followed by a three-month program of motor activities at home. A total of 47 rehabilitative goals were set. Goals achievement, motor function, and parental satisfaction were evaluated. Each program was carried out by the participant’s parents and remotely supervised via Skype calls, twice by a therapist experienced in RTT rehabilitation. RESULTS: Thirty-seven (78.7%) rehabilitative goals were achieved or overachieved. Ten participants (76.9%) significantly increased their gross motor functional level with a medium size effect (0.604). Parental reports of the involved families suggest, on average, a high level of usefulness of the program (4.4/5), adherence to the program (4.4/5), and general satisfaction (4.5/5). CONCLUSIONS: Our findings strongly support the implementation of such programs for this population. As these programs were remotely supervised, they can be implemented when the children are away from referenced facilities for long durations, such as during long holidays or a Covid-19 type lockdown.Implications for rehabilitationA remote supervised motor activity program carried out by the primary caregiver supports motor functioning in RTT.Therapists should consider family members’ motivation to carry out the activities and integrate them into the family’s daily routine.The program should be flexible to adapt to any sudden change in medical and environmental conditions, functional ability, and family members’ motivational levels.

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13. Runge K, Mathieu R, Bugeon S, Lafi S, Beurrier C, Sahu S, Schaller F, Loubat A, Herault L, Gaillard S, Pallesi-Pocachard E, Montheil A, Bosio A, Rosenfeld JA, Hudson E, Lindstrom K, Mercimek-Andrews S, Jeffries L, van Haeringen A, Vanakker O, Van Hecke A, Amrom D, Küry S, Ratner C, Jethva R, Gamble C, Jacq B, Fasano L, Santpere G, Lorente-Galdos B, Sestan N, Gelot A, Giacuzz S, Goebbels S, Represa A, Cardoso C, Cremer H, de Chevigny A. Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons. Molecular psychiatry. 2021; 26(12): 7852.

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14. Schillaci RS, Parker CE, Grigal M, Paiewonsky M. College-Based Transition Services’ Impact on Self-Determination for Youth With Intellectual and Developmental Disabilities. Intellectual and developmental disabilities. 2021; 59(4): 269-82.

Most youth in transition services with labels of intellectual and developmental disabilities (IDD) have poorer employment outcomes than their peers with other or without disabilities. One alternative approach to address this challenge provides youth with IDD access to transition services in the context of a college or university campus. College-based transition services (CBTS) provide students with IDD access to college courses, internships, and employment during their final 2 to 3 years of secondary education. A quasi-experimental design evaluation of one college-based transition services model, Think College Transition, found that, after controlling for student baseline scores, the college-based transition services had a significant effect on students’ scores of self-determination at post-test. Implications for further refining the model are discussed.

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15. Silva C, Maia N, Santos F, Rodrigues B, Marques I, Santos R, Jorge P. Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions. Scientific reports. 2021; 11(1): 14676.

Over 100 X-linked intellectual disability genes have been identified, with triplet repeat expansions at the FMR1 (FRAXA) and AFF2 (FRAXE) genes being the causative agent in two of them. The absence of FRAXE pathognomonic features hampers early recognition, delaying testing and molecular confirmation. Hence, our laboratory uses a multiplex PCR-based strategy to genotype both FRAXA and FRAXE. However, AFF2 expansions are missed giving rise to an uninformative result in around 20% of female samples. To rule out undetected expansions and confirm homozygosity Southern blot analysis is performed being labour- and resource-intensive. The aim of this study is to develop a timely and economic triplet-primed amplification (TP-PCR) screening strategy to size the AFF2 GCC repeat and accurately assess homozygosity as well as pinpoint multiplex-PCR false negatives in female samples. In order to achieve this, validation was performed in a cohort of 500 females with a previous uninformative FRAXE PCR result. Interestingly, the presence of a T > C SNP (rs868949662), contiguous to the GCC repetitive tract, allows triplet primer binding in two additional repeats, increasing the discrimination power of the TP-PCR assay in heterozygous and homozygous samples. Twelve alleles outside the normal range were recognized: eight intermediate and four premutated, which seems relevant considering the rarity of the AFF2 expansions. All genotypes are concordant with that obtained by Southern blotting, confirming this as a strict, reproducible and low-cost homozygosity screening strategy that enables the identification of small expanded alleles missed by the routine multiplex-PCR due to allele dropout. Overall, this assay is capable of spotting multiplex-PCR false negatives besides identifying alleles up to > 80 GCC repeats. Furthermore, the occurrence of intermediate repeat sizes with unexpected frequency, introduces new areas of clinical research in this cohort in understanding these less explored AFF2 repeat sizes and newly associated phenotypes.

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16. Simashkova NV, Makushkin EV, Ivanov MV, Balakireva EE, Kulikov AV, Koval-Zaytsev AA, Luss LA. [Models of clinical and social management of patients with autism spectrum disorders]. Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2021; 121(6): 13-20.

OBJECTIVE: To develop clinical and social models and management routes for patients with autism spectrum disorders (ASD). MATERIAL AND METHODS: A clinical follow-up study was performed for 254 patients, aged 4-17 years (average age 7.3 years), who represented the main forms of ASD. Psychopathological, clinical-follow-up, psychological and statistical methods were used. RESULTS AND CONCLUSION: Five management models for patients with different forms of ASD are described; differentiation of routes for interagency monitoring of patients is proposed. The effectiveness of the integrated use of drug and non-drug therapeutic approaches for the management of patients with ASD in the clinical-age aspect is shown. Timely diagnosis of ASD makes it possible to develop differentiated routes of patient management within the framework of interdepartmental interaction and achieve positive results in the clinical and age aspect.

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17. Thom RP, McDougle CJ. Case Reports: Clozapine for the Treatment of Catatonia in Autism Spectrum Disorder. Journal of autism and developmental disorders. 2021.

Catatonia is a severe clinical syndrome which has been increasingly reported in autism spectrum disorder (ASD). The prevalence of catatonia in ASD is unknown. Diagnosing catatonia in ASD is complicated by overlapping clinical features such as mutism, stereotypies, and echophenomena. Here, we present the clinical histories of two individuals with ASD and catatonia who were successfully treated with clozapine. We have reported on a novel potential treatment option for catatonia in ASD. Additional studies are needed to evaluate the safety, efficacy, and tolerability of clozapine for the treatment of catatonia in ASD.

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18. Villani C, Carli M, Castaldo AM, Sacchetti G, Invernizzi RW. Fluoxetine increases brain MeCP2 immuno-positive cells in a female Mecp2 heterozygous mouse model of Rett syndrome through endogenous serotonin. Scientific reports. 2021; 11(1): 14690.

Motor skill deficit is a common and invalidating symptom of Rett syndrome (RTT), a rare disease almost exclusively affecting girls during the first/second year of life. Loss-of-function mutations of the methyl-CpG-binding protein2 (MECP2; Mecp2 in rodents) gene is the cause in most patients. We recently found that fluoxetine, a selective serotonin (5-HT) reuptake inhibitor and antidepressant drug, fully rescued motor coordination deficits in Mecp2 heterozygous (Mecp2 HET) mice acting through brain 5-HT. Here, we asked whether fluoxetine could increase MeCP2 expression in the brain of Mecp2 HET mice, under the same schedule of treatment improving motor coordination. Fluoxetine increased the number of MeCP2 immuno-positive (MeCP2(+)) cells in the prefrontal cortex, M1 and M2 motor cortices, and in dorsal, ventral and lateral striatum. Fluoxetine had no effect in the CA3 region of the hippocampus or in any of the brain regions of WT mice. Inhibition of 5-HT synthesis abolished the fluoxetine-induced rise of MeCP2(+) cells. These findings suggest that boosting 5-HT transmission is sufficient to enhance the expression of MeCP2 in several brain regions of Mecp2 HET mice. Fluoxetine-induced rise of MeCP2 could potentially rescue motor coordination and other deficits of RTT.

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