A scoping review of early childhood support for Aboriginal and Torres Strait Islander children living with a disability in regional, rural and remote settings.

INTRODUCTION: Many experts and communities have concerns about how National Disability Insurance Scheme services are provided to Aboriginal and Torres Strait children. This study was undertaken at the request of the NPY Women's Council in partnership with the researchers, to explore supports for Aboriginal and Torres Strait Islander children living with a disability in their remote areas. OBJECTIVE: This scoping review aims to (a) explore the barriers and enablers to accessing disability support services for families of young Aboriginal and Torres Strait Islander children (0-8 years) living in regional, rural and remote settings, and (b) summarise best practice approaches for accessing support for young children in these settings. DESIGN: The search was run in three electronic databases, as well as grey literature sources. We assessed the quality of included publications using the Centre of Research Excellence in Aboriginal Chronic Disease Knowledge Translation and Exchange tool. A narrative synthesis was supported by thematic analysis. FINDINGS: From an initial search (557 citations), we identified 13 eligible documents. Most documents were peer-reviewed articles of qualitative studies. Key themes identified included the following: (1) Holistic approach, (2) Understanding disability, (3) Consistent relationships, (4), Flexibility, (5) Simplify system and (6) Enhance communication. DISCUSSION/CONCLUSION: This scoping review has revealed gaps in the provision of quality, culturally responsive disability services for families of Aboriginal and Torres Strait Islander children living in regional, rural and remote areas of Australia. A family-centred, flexible approach will help address their needs. Future research is required to design and evaluate models of care for Aboriginal and Torres Strait Islander children.

Effect of a Tailored Physiotherapy Rehabilitation on Developmental Delay Primary to Non-communicating Hydrocephalus: A Case Study.

This case report presents the physiotherapy intervention of a one-year-old male child diagnosed with non-communicating hydrocephalus primary to developmental delay. Hydrocephalus is marked by an accumulation of cerebrospinal fluid and often leads to significant developmental delays and neurological impairments in affected infants. The physiotherapy intervention aimed to achieve head and trunk control, improve sensory awareness, and enhance overall body coordination and balance. Various techniques, including neurodevelopmental techniques, sensory stimulation, hippotherapy, and sensory integration therapy, were utilized to target specific developmental milestones and functional abilities. Outcome measures, including the Gross Motor Function Measure, Infant Neurological International Battery, Hammersmith Infant Neurological Examination, and New Ballard Score, were used to assess the patient's progress pre- and post-intervention. Significant improvements were observed across all outcome measures following four months of physiotherapy rehabilitation. The patient demonstrated substantial gains in gross motor function, neurological examination scores, and overall developmental milestones. These findings underscore the effectiveness of physiotherapy rehabilitation in addressing developmental delays associated with non-communicating hydrocephalus. This case underscores the significance of early physiotherapy intervention, which plays a vital role in enhancing outcomes and improving the quality of life for affected children.

Development of a culturally enhanced caregiver-facilitated language nutrition intervention "+Language is Medicine" to address developmental delay in Diné (Navajo) toddlers.

Introduction: Developmental Delay (DD) is highly common in American Indian and Alaska Native (AI/AN; Indigenous) toddlers and leads to high numbers of AI/AN children who eventually need special education services. AI/AN children are 2.89 times more likely to receive special education compared to other children in the U.S., yet developmental disorders are more frequently under diagnosed and untreated in AI/AN infants and toddlers. DD, which can be identified as early as toddlerhood, can lead to negative impacts on developmental trajectories, school readiness, and long-term health. Signs of DD can be identified early with proper developmental screening and remediated with high quality early intervention that includes effective parent training. There are many evidence-based language facilitation interventions often used in Early Intervention programs. However, in communities in rural parts of the Navajo Nation where there are limited services and resources, infants and toddlers with early signs of DD are often missed and do not get the culturally responsive support and evidence-based intervention they deserve. Methods: The community-based +Language is Medicine (+LiM) study team partnered with tribal home visitors, community members, and a Diné linguist/elder using a collaborative virtual workgroup approach in 2021 and 2022 to present the +LiM pilot study aims and to discuss strategies for enhancing a language intervention for toddlers experiencing DD in their tribal community. This paper will detail the stages of community engagement, intervention enhancement and preparation for field testing of the +LiM intervention to address elevated rates of DD in toddlers in the Northern Agency of the Navajo Nation. Results: Two major outcomes from this collaborative workgroup included: (1) a team-initiated redefining of language nutrition to align with Indigenous values that center cultural connectedness and native language use and (2) a five-lesson caregiver-facilitated curriculum titled +Language is Medicine which includes caregiver lessons on language nutrition, language facilitation, shared book reading, pretend play, and incorporation of native language into home routines. These two workgroup outcomes were leveraged to develop a pilot pre-/post-intervention study to test the effectiveness of the +LiM intervention with caregiver-toddler dyads living on the Navajo Nation. Discussion: Delivering tailored child interventions through tribal home visiting are cost-effective and innovative methods for reaching reservation-based families who benefit from culturally responsive parent coaching and instruction. The +LiM team has applied a precision tribal home visiting approach to enhance methods of early intervention for children with DD. Our enhancement process was grounded in Indigenous community-based participatory research that centered culture and language.

The de novo missense mutation F224S in GABRB2, identified in epileptic encephalopathy and developmental delay, impairs GABAAR function.

Genetic variants in genes encoding subunits of the γ-aminobutyric acid-A receptor (GABAAR) have been found to cause neurodevelopmental disorders and epileptic encephalopathy. In a patient with epilepsy and developmental delay, a de novo heterozygous missense mutation c.671T>C (p.F224S) was discovered in the GABRB2 gene, which encodes the ß2 subunit of GABAAR. Based on previous studies on GABRB2 variants, this new GABRB2 variant (F224S) would be pathogenic. To confirm and investigate the effects of this GABRB2 mutation on GABAAR channel function, we conducted transient expression experiments using GABAAR subunits in HEK293T cells. The GABAARs containing mutant ß2 (F224S) subunit showed poor trafficking to the cell membrane, while the expression and distribution of the normal α1 and γ2 subunits were unaffected. Furthermore, the peak current amplitude of the GABAAR containing the ß2 (F224S) subunit was significantly smaller compared to the wild type GABAAR. We propose that GABRB2 variant F224S is pathogenic and GABAARs containing this ß2 mutant reduce response to GABA under physiological conditions, which could potentially disrupt the excitation/inhibition balance in the brain, leading to epilepsy.

First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature review.

Background: The SMARCB1 gene encodes a subunit of the BRG1-Associated Factor (BAF) complex, and mutations in this gene have been linked to Coffin-Siris Syndrome (CSS) type 3. CSS is characterized by a range of developmental disabilities, facial dysmorphic features, and feeding difficulties. There's been noted genotype-phenotype correlation in CSS, with cases involving SMARCB1 mutations often exhibiting more severe language impairment and intellectual disability. Method: We conducted a review of reported CSS type 3 cases and presented the first instance of CSS associated with a SMARCB1 variant wherein the patient exhibited normal intelligence and only mild selective neuropsychological deficits. The patient underwent evaluation for feeding challenges, growth delay, and dysmorphic features during their second year of life. Subsequently, CSS diagnosis was confirmed due to a de novo heterozygous c.568C > T (p.Arg190Trp) variant in the SMARCB1 gene. Due to learning difficulties, the patient underwent a comprehensive neuropsychological assessment, which was related to the retrospective reconstruction of her medical and developmental history. Results: The patient demonstrated normal intelligence and adaptive functioning, with specific deficits in arithmetic and selective difficulties in verbal learning and long-term memory. Feeding difficulties and language delay observed in early childhood showed significant improvement over time. Discussion: We discuss this case in relation to previously reported CSS type 3 cases, emphasizing neuropsychological aspects. It's evident that neuropsychological features of CSS can vary among affected individuals, highlighting the importance of personalized support and interventions tailored to specific cognitive and emotional needs by healthcare professionals. Our case suggests avenues for future research to identify specific modifiers of phenotypic expression to explain variability in intellect among patients and pinpoint potential targets for gene therapy.

Intrauterine chromium exposure and cognitive developmental delay: The modifying effect of genetic predisposition.

There is limited evidence on the effects of intrauterine chromium (Cr) exposure on children's cognitive developmental delay (CDD). Further, little is known about the genetic factors in modifying the association between intrauterine Cr exposure and CDD. The present study involved 2361 mother-child pairs, in which maternal plasma Cr concentrations were assessed, a polygenic risk score for the child was constructed, and the child's cognitive development was evaluated using the Bayley Scales of Infant Development. The risks of CDD conferred by intrauterine Cr exposure in children with different genetic backgrounds were evaluated by logistic regression. The additive interaction between intrauterine Cr exposure and genetic factors was evaluated by calculating the relative excess risk due to interaction (RERI), attributable proportion due to interaction (AP), and synergy index (SI). According to present study, higher intrauterine Cr exposure was significantly associated with increased CDD risk [each unit increase in ln-transformed maternal plasma Cr concentration (ln-Cr): adjusted OR (95 % CI), 1.18 (1.04-1.35); highest vs lowest quartile: adjusted OR (95 % CI), 1.57 (1.10-2.23)]. The dose-response relationship of intrauterine Cr exposure and CDD for children with high genetic risk was more prominent [each unit increased ln-Cr: adjusted OR (95 % CI), 1.36 (1.09-1.70)]. Joint effects between intrauterine Cr exposure and genetic factors were found. Specifically, for high genetic risk carriers, the association between intrauterine Cr exposure and CDD was more evident [highest vs lowest quartile: adjusted OR (95 % CI), 2.33 (1.43-3.80)]. For those children with high intrauterine Cr exposure and high genetic risk, the adjusted AP was 0.39 (95 % CI, 0.07-0.72). Conclusively, intrauterine Cr exposure was a high-risk factor for CDD in children, particularly for those with high genetic risk. Intrauterine Cr exposure and one's adverse genetic background jointly contribute to an increased risk of CDD in children.

Cognitive facet and paradigm of the caregivers of children with developmental problems in Eastern India.

Background: The role of caregivers in grooming the neuro-developmental outcome of high-risk newborns and developmental challenges in children needs to be explored. Objectives: To find the knowledge and perception among parents regarding the neuro-developmental outcome of high-risk newborns, methods adopted to address these problems, and to identify areas on which awareness generation needs to focus. Materials and Methods: A questionnaire-based awareness survey was conducted to understand the knowledge, attitude, and practices of families of children with developmental challenges. Results: The study revealed that more than 70 percent of families lack information about child development, developmental challenges, and means to deal with them. They are unaware of the available health care services and other resources. One in three families has misconceptions on developmental disabilities; consider them as curse or jinx and consequently neglected. Female children with developmental problems are further ostracized due to gender inequity in families. About 10 percent of families have shown great openness toward acquiring new skills and knowledge for handling their children with developmental delays. Conclusions: This study is based on the précis research findings of our grass-root level fieldwork conducted in remote rural Bengal areas. The observation will be of interest and learning materials for general primary care practitioners, family physicians, and stakeholders to initiate appropriate intervention strategies for properly rehabilitating children with developmental delay at grass-root levels of primary health care.

Pontocerebellar Hypoplasia Type 9: A Case Study Highlighting Distinctive Magnetic Resonance Imaging Features.

Pontocerebellar hypoplasia type 9 (PCH9) is a rare, autosomal, recessive, neurodevelopmental disorder caused by a mutation in the AMPD2 gene. Despite its rarity, it presents distinctive clinical and neuroradiological features. Diagnosing it is challenging yet crucial for appropriate management. We describe a 21-month-old boy with clinical and neuroradiological manifestations of the diagnosis, including characteristic signs such as an eight-configured midbrain and hypoplasia of the brainstem and cerebellar structures. Genetic evaluation confirmed homozygous missense mutations in the AMPD2 gene. This case highlights the pathognomonic neuroradiological features of pontocerebellar hypoplasia type 9 that point toward diagnosis.

Childhood Cerebral Adrenoleukodystrophy: Case Report and Literature Review Advocating for Newborn Screening.

Background: X-linked adrenoleukodystrophy (ALD) is a rare genetic disorder caused by a pathogenic variant of the ABCD1 gene, leading to impaired peroxisomal function and the accumulation of very long-chain fatty acids (VLCFAs). ALD presents a wide range of neurological and adrenal symptoms, ranging from childhood cerebral adrenoleukodystrophy to adrenomyeloneuropathy and adrenal insufficiency. Newborn screening (NBS) for ALD is available in some regions but remains lacking in others, such as India. Case Presentation: We present a case of a 10-year-old boy with ALD who presented with seizures, progressive weakness, visual impairment, and adrenal insufficiency. Despite symptomatic management and dietary adjustments, the disease progressed rapidly, leading to respiratory failure and eventual demise. The diagnosis was confirmed through molecular analysis and elevated VLCFA levels. Neuroimaging revealed characteristic white matter changes consistent with ALD. Conclusion: ALD is a devastating disease with no cure, emphasizing the importance of early detection through newborn screening and genetic testing. Management strategies include adrenal hormone therapy, gene therapy, and allogenic stem cell transplantation, as well as investigational treatments such as VLCFA normalization. Our case advocates the need for worldwide NBS and pediatric neurologic follow-up to enable early intervention and improve patient outcomes. Additionally, the association between ALD, recurrent febrile seizures, and unexplained developmental delay warrants further investigation to better understand disease progression and potential therapeutic targets.

Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?

This study delves into the diagnostic yield of whole-exome sequencing (WES) in pediatric patients presenting with developmental delay/intellectual disability (DD/ID), while also exploring the utility of Reverse Phenotyping (RP) in refining diagnoses. A cohort of 100 pediatric patients underwent WES, yielding a diagnosis in 66% of cases. Notably, RP played a significant role in cases with negative prior genetic testing, underscoring its significance in complex diagnostic scenarios. The study revealed a spectrum of genetic conditions contributing to DD/ID, illustrating the heterogeneity of etiological factors. Despite challenges, WES demonstrated effectiveness, particularly in cases with metabolic abnormalities. Reverse phenotyping was indicated in half of the patients with positive WES findings. Neural network models exhibited moderate-to-exceptional predictive abilities for aiding in patient selection for WES and RP. These findings emphasize the importance of employing comprehensive genetic approaches and RP in unraveling the genetic underpinnings of DD/ID, thereby facilitating personalized management and genetic counseling for affected individuals and families. This research contributes insights into the genetic landscape of DD/ID, enhancing our understanding and guiding clinical practice in this particular field of clinical genetics.

Optical Genome Mapping Reveals Disruption of the RASGRF2 Gene in a Patient with Developmental Delay Carrying a De Novo Balanced Reciprocal Translocation.

While balanced reciprocal translocations are relatively common, they often remain clinically silent unless they lead to the disruption of functional genes. In this study, we present the case of a boy exhibiting developmental delay and mild intellectual disability. Initial karyotyping revealed a translocation t(5;6)(q13;q23) between chromosomes 5 and 6 with limited resolution. Optical genome mapping (OGM) enabled a more precise depiction of the breakpoint regions involved in the reciprocal translocation. While the breakpoint region on chromosome 6 did not encompass any known gene, OGM revealed the disruption of the RASGRF2 (Ras protein-specific guanine nucleotide releasing factor 2) gene on chromosome 5, implicating RASGRF2 as a potential candidate gene contributing to the observed developmental delay in the patient. Variations in RASGRF2 have so far not been reported in developmental delay, but research on the RASGRF2 gene underscores its significance in various aspects of neurodevelopment, including synaptic plasticity, signaling pathways, and behavioral responses. This study highlights the utility of OGM in identifying breakpoint regions, providing possible insights into the understanding of neurodevelopmental disorders. It also helps affected individuals in gaining more knowledge about potential causes of their conditions.

Exploring the clinical complexity of cardio-facio-cutaneous syndrome: insights from a pediatric case series.

Background: Cardio-Facio-Cutaneous syndrome (CFCS) is a rare autosomal dominant genetic disorder primarily caused by BRAF gene mutations, posing diagnostic challenges due to its multifaceted clinical presentation. Objective: To elucidate the clinical characteristics of pediatric CFCS patients, expanding the phenotypic spectrum to enhance early diagnostic capabilities, while also presenting the relationship between genotye and corresponding phenotype severity. Methods: From January 2015 to March 2022, four children diagnosed with CFCS in Children's Hospital of Chongqing Medical University were included for analysis. Whole exome sequencing (WES) was conducted to identify the types and locations of possible gene mutations. Neurological development was assessed using electroencephalography (EEG), magnetic resonance imaging (MRI) and Gesell developmental evaluation. Results: All four CFCS patients exhibited de novo BRAF gene mutations, manifesting with cardiac malformations, distinctive facial features, skin and hair changes, and neurological abnormalities. WES revealed that the specific BRAF mutations were closely linked to their clinical severity. Three patients displayed milder symptoms (case 1-3, genotype I or II), demonstrating stability or slight improvement, whereas one patient (case 4, genotype III) suffered from a severe phenotype characterized by profound neurological and digestive system impairments, leading to a significantly reduced quality of life and a grim prognosis. Conclusion: In CFCS patients, severe developmental delay and seizures are predominant neurological features, possibly accompanied by continuous spike-and-wave during sleep (CSWS) and severe sleep disturbances. CFCS generally carries a poor prognosis, underscoring the importance of disease awareness and early genetic testing.

A Rare Case of Niemann-Pick Disease Type-A.

Niemann-Pick disease is a rare lysosomal storage, autosomal recessive disorder that impairs the body's ability to metabolize fats, thus leading to accumulation within cells. It can affect various organs, most commonly the brain, liver, spleen, bone marrow and lungs. Hepatosplenomegaly, inability to thrive and varying neurological deficits are the defining features. The three main types of Niemann-Pick disease are: NPD-A (Niemann-Pick disease type A), NPD-B (Niemann-Pick disease type B) and NPD-C (Niemann-Pick disease type C). NPD-A and NPD-B are due to enzyme acid sphingomyelinase deficiency, caused by SMPD-1 (Sphingomyelin phosphodiesterase 1) gene mutation and NPD-C is due to NPC-1 and NPC-2 (Niemann-Pick C1 and C2 protein) gene mutation. This is the case report of an 11-month-old infant who presented to OPD (Outpatient Department) with failure to thrive, abdominal distension and developmental delay. On examination the infant was emaciated, pale, had hepatosplenomegaly and developmental delay. Bone marrow and liver biopsy showed characteristic lipid-laden foamy macrophages. Thus detailed history, examination and investigations confirmed NPD-A. NPD-A has a poor prognosis and is usually fatal by three years of age. The patient was provided supportive treatment like nutritional therapy and physiotherapy, and parents were counselled regarding the disease outcome. The patient is regularly followed up, and two episodes of chest infections were reported during an 8-month period of follow-up.

Developmental delay in a community setting: Role of a primary care physician.

The early part of childhood especially the first 1000 days plays an essential role in the growth and development of the child. Various internal and external factors affect the child's development, including genetic factors, socioeconomic status, sociocultural environment, maternal mental health, and the parenting environment. There is a high prevalence of developmental delay 17.6% globally, whereas in India, it is around 6.6%. Numerous screening tools are available to detect developmental delay in the child early. Early identification and intervention are crucial because we can have a better outcome for the child if intervention is performed on time. The children can be identified during the postnatal follow-up period. Literature has shown that few parents take their children for regular developmental assessment after delivery. Identifying the developmental impairment early from a primary care physician's point of view is essential. In India under the Rashtriya Bal Swasthya Kariyakram (RBSK), the children are screened at home, Anganwadi centers, and schools to detect at-risk children under 4D's, so that early intervention can be planned by linking them to District Early Intervention Center.

Case Report: New presentation of CLIFAHDD syndrome with a novel variant in the NALCN gene and a literature review.

Background: Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) syndrome (OMIM #616266) is an autosomal dominant hereditary disease that can lead to the congenital contracture of the limbs and face, hypotonia, and developmental delay. In addition, it may result in growth retardation and present various clinical symptoms, such as brain atrophy, a small pituitary gland, musculoskeletal abnormalities, abnormal breathing, abdominal hernia, and abnormal facial features. Herein, we describe a novel de novo missense genetic variant in the sodium leak channel, non-selective (NALCN) gene that is associated with CLIFAHDD syndrome. Case description: This study describes a patient with varus deformities in both feet, deviation of the ulnar side of the fingers, and severe hypotonia. This patient was subsequently confirmed to have CLIFAHDD syndrome through genetic testing, which also revealed a novel missense de novo genetic variant in the NALCN gene (c.3553G > A, p.Ala1185Thr). Conclusions: Our findings further enrich the known variant spectrum of the NALCN gene and may expand the range of clinical options for treating NALCN-related disorders.

Developmental Assessment in Children at Higher Likelihood for Developmental Delays - Comparison of Parent Report and Direct Assessment.

PURPOSE: Accurate assessment of cognitive development of young children is a vital component of developmental evaluations. Direct assessment of developmental skills is not always feasible, but there is limited information on the agreement between direct assessment and caregiver-reported cognitive skills. There is limited information regarding the accuracy of the parent-reported Developmental Profile 4 (DP-4) in comparison to the widely-used developmental measure, the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4). The purpose of the current study was to evaluate whether a standardized parent interview can effectively identify children at risk for cognitive developmental delays. METHODS: We compared the agreement between the Bayley-4 Cognitive and the Developmental Profile 4 (DP-4) in young children being evaluated in-person for early developmental delays. 182 children (134 with an autism diagnosis), ages 6-42 months, completed both assessments. RESULTS: Results showed that Bayley-4 Cognitive scores had a moderately strong correlation with DP4-Cognitive scores (r = 0.70, p < 0.001). A cutoff of 70 or 69 on the DP-4 Cognitive was determined as ideal for identifying developmental delay based on diagnosis of global developmental delay or the Bayley-4 Cognitive. CONCLUSIONS: Our analyses revealed good agreement between DP-4 and Bayley-4 Cognitive scores, even after controlling for confounding variables such as degree of ASD characteristics, age, and sex. These results suggest that caregiver-report measures can be a valid and useful tool in the assessment of young children, particularly when direct developmental assessment is not feasible.

The Effect of Physiotherapy Intervention on an Infant With Congenital Heart Defect Associated With Developmental Delay: A Case Report.

Congenital heart defects (CHDs) are one of the most prevalent anomalies present at birth globally. Children with CHD often face developmental challenges, including motor, language, and cognitive impairments. This case report presents the clinical profile of a 1.2-year-old female child with CHD and developmental delay (DD) post-CHD surgery. The child exhibited delayed gross motor, fine motor, language, and personal-social milestones, along with significant cardiac anomalies observed on CT angiograms. Physiotherapy interventions were initiated to address these DDs, encompassing manual techniques, neurodevelopmental treatment, and multimodal stimulation. The objective of this study was to assess the impact of physiotherapy interventions on improving developmental outcomes in infants with CHD-associated DD. The New Ballard Score and Hammersmith Infant Neurological Examination were utilized to evaluate improvements post-intervention. Significant enhancements in developmental outcomes were observed. This case underscores the significance of holistic care approaches in mitigating the impact of CHD on developmental trajectories and improving the quality of life for affected children.

A Cytogenetic Study of Turkish Children with Global Developmental Delay.

Global developmental delay (GDD)/intellectual disability (ID) is common in children and its etiology is unknown in many cases. Chromosomal abnormalities are predominant genetic causes of GDD/ID. The aim of this study is to determine the genetic risk factors that may be involved in the etiology of GDD/ID. In this study, 810 children with moderate to severe, clinically unexplained GDD/ID for whom cytogenetic analysis were performed were retrospectively rescreened. The results showed that GDD/ID affected more females than males (2 girls:1 boy). A total of 54 children (6.7%) with GDD showed chromosomal aberrations (CAs): 59.3% of these CAs were structural aberrations, and the rest were numerical aberrations (40.7%). Specifically, inversions, deletions, and reciprocal and robertsonian translocations, which were detected in 1, 0.7, 0.8, and 0.4% of the children, respectively, constituted important categories of structural CAs. Among numerical CAs, classic Turner and mosaics were detected in 1.2% of all children. Trisomy 21 and mosaic trisomy 21 were detected in 1% of the children. Marker chromosomes and 47,XXY karyotypes were found in two children each. Our results suggest that female sex is more affected by CAs among GDD/ID cases, and cytogenetic analysis is useful in the etiological diagnosis of GDD/ID.

Alstrom's Syndrome: An Experience of Tertiary Care Center.

Alstrom's syndrome (AS) is an autosomal recessively inherited multisystemic disorder that falls under the umbrella of ciliopathy. It is characterized by poor vision, hearing impairment, cardiomyopathy, childhood obesity, diabetes mellitus type 2, dyslipidemia, pulmonary, hepatic, and renal failure besides systemic fibrosis. Biallelic pathogenic variants in ALMS1 gene cause AS. Retrospective study (1990-2017) included 12 Saudi patients with AS based on their phenotype, biochemical markers, and genotype. The study was approved by Fisal Specialist Hospital and Research Centre, Riyadh (RAC number 2131129) on October 2, 2012. This study showed clinical and genetic heterogeneity; six patients showed a founder mutation (IVS18-2A > T in exon 19), whereas six others showed private mutations. AS in Saudi Arabia is underdiagnosed probably because of its variable clinical manifestations. We report 12 Saudi patients with AS to enhance the awareness about this syndrome.

Promoting Reciprocal Relationships with Flexibility, Coaching, and Teaching (PRRFCT Match): A Virtual Parent-Mediated Intervention Package for Young Children with Developmental Disabilities.

This study aimed to evaluate Promoting Reciprocal Relationships with Flexibility, Coaching, and Teaching (PRRFCT Match), a parent-mediated naturalistic developmental behavioral intervention package. An expansion from an earlier pilot study (see Kunze et al., 2021), PRRFCT Match incorporates virtual coaching between a novice coach and parent to implement evidence-based, applied behavior analytic (ABA) techniques during play to increase engagement and decrease unengaged behavior exhibited by their young child with developmental delays (26-50 months old). Ten parent-child dyads were matched with a coach in this concurrent multiple baseline design across participants. Simulating the clinical training level of a novice early interventionist, nine graduate student clinicians received training as coaches on PRRFCT Match implementation and weekly supervision by a research team member. All aspects of training and intervention were delivered virtually. A visual analysis of the data combined with Tau-U revealed a strong basic effect between clinician coaching and parent strategy use. For child participants, a visual analysis and Tau-U results suggest that most increased engagement and decreased their unengaged behavior during the intervention. High variability, overlap, and high engagement at baseline are discussed. This study shows promise for the PRRFCT Match intervention package. The ABA technologies mediated by parents during play increased child engagement and decreased unengagement for most participants.