Hesham Aldhalaan - Academia.edu (original) (raw)
Papers by Hesham Aldhalaan
Child and Adolescent Psychiatry and Mental Health
Background Despite the prevalence of Autism Spectrum Disorder (ASD) globally, there’s a knowledge... more Background Despite the prevalence of Autism Spectrum Disorder (ASD) globally, there’s a knowledge gap pertaining to autism in Arabic nations. Recognizing the need for validated biomarkers for ASD, our study leverages eye-tracking technology to understand gaze patterns associated with ASD, focusing on joint attention (JA) and atypical gaze patterns during face perception. While previous studies typically evaluate a single eye-tracking metric, our research combines multiple metrics to capture the multidimensional nature of autism, focusing on dwell times on eyes, left facial side, and joint attention. Methods We recorded data from 104 participants (41 neurotypical, mean age: 8.21 ± 4.12 years; 63 with ASD, mean age 8 ± 3.89 years). The data collection consisted of a series of visual stimuli of cartoon faces of humans and animals, presented to the participants in a controlled environment. During each stimulus, the eye movements of the participants were recorded and analyzed, extracting...
Autism spectrum disorders (ASD) are the most-prevalent neurodevelopmental disorders. However, eac... more Autism spectrum disorders (ASD) are the most-prevalent neurodevelopmental disorders. However, each child diagnosed with ASD presents with a unique range of behavioral and communication problems and issues with social skills. Many studies have highlighted the importance of early interventions for children with ASD to improve their skills and provide their families with the necessary support. However, in the Kingdom of Saudi Arabia (KSA), the earliest that a child with ASD in the major cities receives an intervention is at the age of 4 years, owing to limited services and a lack of awareness of the importance and benefits of early interventions. Families who live in rural areas of KSA arguably have a greater need for these services, as they have to travel to cities such as Riyadh for help. The use of telehealth services may be effective for ASD intervention among children living in rural areas, since such services use technology to provide consultations, interventions, diagnosis, training, and education. Research indicates that telehealth services are as valuable as traditional face-to-face treatment, allow families to obtain support from their homes, and help them improve their quality of life. This review will discuss the application of telehealth services to support families in rural areas of KSA who are dealing with issues of ASD, considering the cultural and religious contexts. In addition, it will examine ways in which technology can be employed to suit KSA's culture and needs.
F1000Research, May 4, 2022
Background: Ayres Sensory Integration (ASI) is widely employed by occupational therapists working... more Background: Ayres Sensory Integration (ASI) is widely employed by occupational therapists working with clients who experience challenges in sensory integration, including those with autism spectrum disorder (ASD). However, there is a dearth of research examining the feasibility of ASI outside of Western nations. This study documented the barriers associated with ASI in Saudi Arabia and assessed whether the intervention could improve process and participation skills. Methods: A pre-test/post-test case study design was used. The participant was a 4-year-old girl with ASD from Saudi Arabia. Data were gathered on sensory processing, motor skills, and participation in activities of daily living. The study used semi-structured interviews and assessments (Sensory Integration and Praxis Tests, the Sensory Processing Measure-Preschool, and the Peabody Developmental Motor Scale-2) to develop goals, identify outcome measures, and plan an ASI intervention. Results: Despite the limited availability of resources (e.g., toys, treatment spaces) and Arabic measures, improvements were observed on motor and sensory tasks and in occupational performance. Conclusion: ASI that adheres to the ASI fidelity tool can be of value for Saudi Arabian children with ASD. Additionally, the study provides a stepping-stone to further research for occupational therapists in Saudi Arabia working with children with ASD.
IntechOpen eBooks, Apr 28, 2021
Autism is a neurodevelopmental disorder of undefined etiology characterized by social, communicat... more Autism is a neurodevelopmental disorder of undefined etiology characterized by social, communication deficits, and restricted interests/repetitive or isolated behaviors. The determination of autism is made in early life as the patients create unusual or decreased social interaction and communication, together with stereotypic movement. In most patients, a delay in verbal and nonverbal communication is watched, whereas a few patients never accomplish valuable language. Patients with autism and epilepsy may develop any type of seizure and maybe all type of seizures. Interestingly, not absolutely understood relationship between each and a lot of research in progress concerning these relations. In patients with autism, some they do not develop seizures; however, abnormal paroxysmal electroencephalographic "EEG" activity can be seen in up to 30%. For that reason, important investigation of patients with autistic spectrum disorders, and any kids with language regression, should always include sleep recording EEG in order to exclude acquired epileptic aphasia (Landau-Kleffner syndrome). The complex relationship between autism and epilepsy provides a bridge to further knowledge of shared neuronal networks for both the autisms and the epilepsies We review the literature to elucidate the relationships between epilepsy and autism.
International Journal of Hygiene and Environmental Health, Sep 1, 2020
Rural water networks in the developing world are typically branched networks with a single water ... more Rural water networks in the developing world are typically branched networks with a single water source. The main design decision to be made for such networks is the choice of pipe diameters from a discrete set of commercially available pipe diameters. Larger the pipe diameters, better the service (pressure), but higher is the capital cost. In general, each link (connection between two nodes) in the network can consist of several pipe segments of differing diameters. For such networks, existing design tools solve the constrained-optimization problem heuristically [1] [2]. In [3], an ILP formulation is proposed for the special case of one pipe diameter per link. This means that currently one can either get an optimal solution for the special case of one piped segment per link or get a non-optimal solution for the general case of multiple pipe segments per link. In this work, we come up with a model that solves the general formulation while still maintaining optimality. Our model has an LP formulation. It not only manages to optimally solve the general case, it also has a runtime performance that is better than both the heuristic approach to the general problem as well as the optimal approach to the specific problem (one pipe per link). To aid the designers of piped water networks, we have developed an optimization system called JalTantra that implements this model. It also has GIS functionality integrated for ease of providing network details. It is publicly available at http://www.cse.iitb.ac.in/jaltantra/ .
Autism Research, Jul 21, 2020
Nicotinic receptors are distributed throughout the central and peripheral nervous system. Postmor... more Nicotinic receptors are distributed throughout the central and peripheral nervous system. Postmortem studies have reported that some nicotinic receptor subtypes are altered in the brains of autistic people. Recent studies have demonstrated the importance of nicotinic acetylcholine receptors (nAChRs) in the autistic behavior of BTBR T + tf/J mouse model of autism. This study was undertaken to examine the behavioral effects of targeted nAChRs using pharmacological ligands, including nicotine and mecamylamine in BTBR T + tf/J and C57BL/6J mice in a panel of behavioral tests relating to autism. These behavioral tests included the three-chamber social interaction, self-grooming, marble burying, locomotor activity, and rotarod test. We examined the effect of various oral doses of nicotine (50, 100, and 400 mcg/mL; po) over a period of 2 weeks in BTBR T + tf/J mouse model. The results indicated that the chronic administration of nicotine modulated sociability and repetitive behavior in BTBR T + tf/J mice while no effects observed in C57BL/6J mice. Furthermore, the nonselective nAChR antagonist, mecamylamine, reversed nicotine effects on sociability and increased repetitive behaviors in BTBR T + tf/J mice. Overall, the findings indicate that the pharmacological modulation of nicotinic receptors is involved in modulating core behavioral phenotypes in the BTBR T + tf/J mouse model.
JMIR pediatrics and parenting, Nov 15, 2018
Autism spectrum disorders (ASD) are the most-prevalent neurodevelopmental disorders. However, eac... more Autism spectrum disorders (ASD) are the most-prevalent neurodevelopmental disorders. However, each child diagnosed with ASD presents with a unique range of behavioral and communication problems and issues with social skills. Many studies have highlighted the importance of early interventions for children with ASD to improve their skills and provide their families with the necessary support. However, in the Kingdom of Saudi Arabia (KSA), the earliest that a child with ASD in the major cities receives an intervention is at the age of 4 years, owing to limited services and a lack of awareness of the importance and benefits of early interventions. Families who live in rural areas of KSA arguably have a greater need for these services, as they have to travel to cities such as Riyadh for help. The use of telehealth services may be effective for ASD intervention among children living in rural areas, since such services use technology to provide consultations, interventions, diagnosis, training, and education. Research indicates that telehealth services are as valuable as traditional face-to-face treatment, allow families to obtain support from their homes, and help them improve their quality of life. This review will discuss the application of telehealth services to support families in rural areas of KSA who are dealing with issues of ASD, considering the cultural and religious contexts. In addition, it will examine ways in which technology can be employed to suit KSA's culture and needs.
Research Square (Research Square), Feb 25, 2022
Objectives: Research examining the age of diagnosis of autism spectrum disorder (ASD) and its in ... more Objectives: Research examining the age of diagnosis of autism spectrum disorder (ASD) and its in uencing factors mostly originate from developed Western countries, providing little to no systematic information about the understanding and management of ASD in the rest of the world. The present exploratory study examined the in uence of child and family characteristics on the age of ASD diagnosis in Saudi Arabia. Results: The median age at diagnosis was 3.0 years and was associated with some child and family characteristics. A one-year increase in child's age was associated with a 0.1-year increase in age of diagnosis (95% CI: 0.05, 0.12). Children who did not respond to their name were diagnosed 0.3 years earlier than other children (95% CI:-0.60,-0.05), and engaging in challenging behavior was associated with a 0.5-year increase in age of diagnosis (95% CI: 0.20, 0.81). A lack of comorbidity was associated with a 0.6-year increase in the age of diagnosis compared to the diagnosis age of children with comorbidity (95% CI: 0.13, 1.01). Finally, those residing outside of Saudi Arabia were diagnosed with ASD 0.9 years earlier than those residing in Saudi Arabia (95% CI:-0.171,-0.11).
Cureus, Dec 22, 2021
Forkhead box protein 1 (FOXP1) (OMIM: 605515) is located at chromosomal region 3p14.1, which code... more Forkhead box protein 1 (FOXP1) (OMIM: 605515) is located at chromosomal region 3p14.1, which codes for a transcriptional repressor protein. FOXP1 syndrome (FOXP1S) (OMIM #613670) is caused by FOXP1 gene deletions and mutations (nonsense, missense, and in-frame deletions). It is identified by the presence of intellectual disability with language impairment, with or without autistic features. This paper describes the case of a seven-year-old girl mainly presenting with autism spectrum disorder, language impairment, and intellectual disability. In addition, she also exhibited signs of attention deficit hyperactivity disorder. Whole-exome sequencing showed that she had a mutation in the FOXP1 gene; the variant revealed was FOXP1: NM_001244813 with a deleted segment (1152-1164) of exon 11. Subsequently, she was diagnosed with FOXP1 syndrome. In order to manage behavioral disturbance, risperidone was given, and she showed marked improvement. In this article, we report the characteristic features of attention deficits hyperactivity in addition to previously reported autism spectrum disorder with language impairment accompanied by intellectual disability caused by FOXP1 exon deletion. This study aims to provide a systematic, comprehensive presentation of a patient with a FOXP1 mutation to contribute to the existing literature on this subject.
DOAJ (DOAJ: Directory of Open Access Journals), Mar 1, 2022
Journal of Neurology and Neuroscience, 2018
Cavitating leukoencephalopathy is a group of disorders caused by multiple mitochondria dysfunctio... more Cavitating leukoencephalopathy is a group of disorders caused by multiple mitochondria dysfunction syndrome (MMDS). Multiple genetic mutations have been identified in its etiology including a mutation in the IBA57 gene on chromosome 1q42. We present the case of a 5-month-old boy who was diagnosed with progressive cavitating leukoencephalopathy at King Faisal specialist Hospital, Riyadh city, Saudi Arabia. The patient presented with frequent excessive crying since birth. He also had a history of abnormal movement described as tonic spasm of the upper limbs for few second, delayed developmental milestones, and regression of the achieved milestones. Neurological examination of the patient was positive for horizontal eye nystagmus and optic nerve atrophy, exaggerated gag response, spastic tone that was more prevalent in the upper limbs, and bilateral clonus. The patient showed abnormal findings on MRI including cavitation and cystic leukodystrophy, and homozygosity mapping showed the IBA57 gene mutation. The patient died at the age of 7 months from progressive respiratory failure. MMDS is a rare condition, and according to available data, this case of MMDS is the first to be reported in Saudi Arabia and in the Gulf region.
Saudi Medical Journal, Aug 1, 2021
To assess how clinical services are accessed and utilized by young children with suspected autism... more To assess how clinical services are accessed and utilized by young children with suspected autism spectrum disorder (ASD) and identifying factors that prevent the early identification of developmental concerns and diagnosis. Methods: This retrospective study examined the sociodemographic and clinical characteristics of a convenience sample of children diagnosed with ASD at the Center for Autism Research, Riyadh, Saudi Arabia between 2016 and 2018. The characteristics of ASD assessment and intervention service use were examined. Original Article Additionally, we examined the association between sociodemographic, clinical, and service use variables with the child's age at the time of the parent's initial concern and first ASD diagnosis, and the time from first concern to diagnosis. Results: Out of 127 cases, 67 were diagnosed with ASD (mean: 46.88 months, SD: 18.88, median: 42.00, range, 19-93). Most ASD cases had one previous assessment (n=28, 41.8%). Higher sibling numbers were associated with a later age of first concern (p=0.0278). Applied behavior analysis service utilization was associated with later age of first ASD diagnosis (p=0.0336) and longer time to ASD diagnosis (p=0.0301). Conclusion: Larger sample size is needed to further investigate whether these findings are representative of the national experience. Community-based intervention outcome studies should assess the quality of services being provided.
Neurosciences
Objectives: To describe the complex phenotype of ATP1A3 and second to report new mutation of ATP1... more Objectives: To describe the complex phenotype of ATP1A3 and second to report new mutation of ATP1A3. Methods: This is a retrospective chart review of 7 patients who was diagnosed with ATP1A3 mutation based on whole exome sequencing)WES(result and the following information were collected; age, age of onset, developmental ability, seizure type, family history, MRI, WES report. The data collection started
Journal of Trace Elements in Medicine and Biology
International Journal of Hygiene and Environmental Health
Children
Background: There is a large gap between the needs of individuals diagnosed with autism spectrum ... more Background: There is a large gap between the needs of individuals diagnosed with autism spectrum disorder (ASD) and the currently available services in Saudi Arabia. Services are often difficult to access, inconsistent in quality, incomplete, unsatisfactory, and costly. As such, there is a national need for expert consensus on the appropriate standards for the assessment and management of children on the autism spectrum. Methodology: A guideline development group (GDC) was formed by professionals representing all related specialties and institutions involved in the management of individuals on the autism spectrum in Saudi Arabia. They met on a regular basis over 21 months. The guideline development process consisted of five steps starting from reviewing existing guidelines and ending with discussing and writing this manuscript. A formal voting process was utilized and recommendations were discussed until a consensus was reached. Results: There was consensus on the following: A speci...
Pesquisa Brasileira em Odontopediatria e Clínica Integrada, 2020
Journal of Early Intervention, Jul 27, 2018
A randomized controlled trial was conducted to assess the feasibility of Responsive Teaching (RT)... more A randomized controlled trial was conducted to assess the feasibility of Responsive Teaching (RT) with a sample of 28 Saudi Arabian preschool-aged children with diagnoses of autism and their mothers over a 4-month period of time. RT is an early intervention curriculum that attempts to promote children's development by encouraging parents to engage in highly responsive interactions. Subjects were randomly assigned to treatment conditions: the Control group received standard community services; the RT group received weekly RT parent-child sessions in addition to standard services. Consistent with the focus of the intervention, RT mothers made significantly greater increases in Responsiveness and Affect than Control group mothers. There were also significant group differences in pre-and posttreatment measures of children's language and social and fine motor developmental scores. On average, the developmental improvements observed for RT children were 44% greater for social development, 37% greater for language development, and 24% greater for fine motor development than the improvements observed for Control group children. Implications of these findings for providing early intervention services for young children with autism and are discussed.
International Journal of Disability Development and Education, Aug 15, 2018
This investigation examined the consequences and effects of the severity of mothers psychosocial ... more This investigation examined the consequences and effects of the severity of mothers psychosocial functioning as assessed by measures parenting stress and depression in a randomised control trial of a Relationship-based Intervention (RBI) called Responsive Teaching (RT). The sample included 28 parents and preschool aged children with Autism from Saudi Arabia. RT subjects received weekly parentchild intervention sessions for 4 months. Dependent variables were mothers' style of interaction as assessed by the PICCOLO at post intervention as well as pre-and post-measures of parenting stress and depression. There were three findings from this study. First, mothers who participated in this study had extremely high levels of psychosocial dysfunction. Nearly all reported clinical levels of parenting stress and more than 40% reported clinical levels of depressive symptoms. Second, high levels of psychosocial dysfunction did not prevent mothers from participating in RT as indicated by their ability to integrate RT strategies into their interactions with their children. Third, RT was associated with substantial improvements in mother's parenting stress and depression. Implication for early intervention practice are discussed.
Child and Adolescent Psychiatry and Mental Health
Background Despite the prevalence of Autism Spectrum Disorder (ASD) globally, there’s a knowledge... more Background Despite the prevalence of Autism Spectrum Disorder (ASD) globally, there’s a knowledge gap pertaining to autism in Arabic nations. Recognizing the need for validated biomarkers for ASD, our study leverages eye-tracking technology to understand gaze patterns associated with ASD, focusing on joint attention (JA) and atypical gaze patterns during face perception. While previous studies typically evaluate a single eye-tracking metric, our research combines multiple metrics to capture the multidimensional nature of autism, focusing on dwell times on eyes, left facial side, and joint attention. Methods We recorded data from 104 participants (41 neurotypical, mean age: 8.21 ± 4.12 years; 63 with ASD, mean age 8 ± 3.89 years). The data collection consisted of a series of visual stimuli of cartoon faces of humans and animals, presented to the participants in a controlled environment. During each stimulus, the eye movements of the participants were recorded and analyzed, extracting...
Autism spectrum disorders (ASD) are the most-prevalent neurodevelopmental disorders. However, eac... more Autism spectrum disorders (ASD) are the most-prevalent neurodevelopmental disorders. However, each child diagnosed with ASD presents with a unique range of behavioral and communication problems and issues with social skills. Many studies have highlighted the importance of early interventions for children with ASD to improve their skills and provide their families with the necessary support. However, in the Kingdom of Saudi Arabia (KSA), the earliest that a child with ASD in the major cities receives an intervention is at the age of 4 years, owing to limited services and a lack of awareness of the importance and benefits of early interventions. Families who live in rural areas of KSA arguably have a greater need for these services, as they have to travel to cities such as Riyadh for help. The use of telehealth services may be effective for ASD intervention among children living in rural areas, since such services use technology to provide consultations, interventions, diagnosis, training, and education. Research indicates that telehealth services are as valuable as traditional face-to-face treatment, allow families to obtain support from their homes, and help them improve their quality of life. This review will discuss the application of telehealth services to support families in rural areas of KSA who are dealing with issues of ASD, considering the cultural and religious contexts. In addition, it will examine ways in which technology can be employed to suit KSA's culture and needs.
F1000Research, May 4, 2022
Background: Ayres Sensory Integration (ASI) is widely employed by occupational therapists working... more Background: Ayres Sensory Integration (ASI) is widely employed by occupational therapists working with clients who experience challenges in sensory integration, including those with autism spectrum disorder (ASD). However, there is a dearth of research examining the feasibility of ASI outside of Western nations. This study documented the barriers associated with ASI in Saudi Arabia and assessed whether the intervention could improve process and participation skills. Methods: A pre-test/post-test case study design was used. The participant was a 4-year-old girl with ASD from Saudi Arabia. Data were gathered on sensory processing, motor skills, and participation in activities of daily living. The study used semi-structured interviews and assessments (Sensory Integration and Praxis Tests, the Sensory Processing Measure-Preschool, and the Peabody Developmental Motor Scale-2) to develop goals, identify outcome measures, and plan an ASI intervention. Results: Despite the limited availability of resources (e.g., toys, treatment spaces) and Arabic measures, improvements were observed on motor and sensory tasks and in occupational performance. Conclusion: ASI that adheres to the ASI fidelity tool can be of value for Saudi Arabian children with ASD. Additionally, the study provides a stepping-stone to further research for occupational therapists in Saudi Arabia working with children with ASD.
IntechOpen eBooks, Apr 28, 2021
Autism is a neurodevelopmental disorder of undefined etiology characterized by social, communicat... more Autism is a neurodevelopmental disorder of undefined etiology characterized by social, communication deficits, and restricted interests/repetitive or isolated behaviors. The determination of autism is made in early life as the patients create unusual or decreased social interaction and communication, together with stereotypic movement. In most patients, a delay in verbal and nonverbal communication is watched, whereas a few patients never accomplish valuable language. Patients with autism and epilepsy may develop any type of seizure and maybe all type of seizures. Interestingly, not absolutely understood relationship between each and a lot of research in progress concerning these relations. In patients with autism, some they do not develop seizures; however, abnormal paroxysmal electroencephalographic "EEG" activity can be seen in up to 30%. For that reason, important investigation of patients with autistic spectrum disorders, and any kids with language regression, should always include sleep recording EEG in order to exclude acquired epileptic aphasia (Landau-Kleffner syndrome). The complex relationship between autism and epilepsy provides a bridge to further knowledge of shared neuronal networks for both the autisms and the epilepsies We review the literature to elucidate the relationships between epilepsy and autism.
International Journal of Hygiene and Environmental Health, Sep 1, 2020
Rural water networks in the developing world are typically branched networks with a single water ... more Rural water networks in the developing world are typically branched networks with a single water source. The main design decision to be made for such networks is the choice of pipe diameters from a discrete set of commercially available pipe diameters. Larger the pipe diameters, better the service (pressure), but higher is the capital cost. In general, each link (connection between two nodes) in the network can consist of several pipe segments of differing diameters. For such networks, existing design tools solve the constrained-optimization problem heuristically [1] [2]. In [3], an ILP formulation is proposed for the special case of one pipe diameter per link. This means that currently one can either get an optimal solution for the special case of one piped segment per link or get a non-optimal solution for the general case of multiple pipe segments per link. In this work, we come up with a model that solves the general formulation while still maintaining optimality. Our model has an LP formulation. It not only manages to optimally solve the general case, it also has a runtime performance that is better than both the heuristic approach to the general problem as well as the optimal approach to the specific problem (one pipe per link). To aid the designers of piped water networks, we have developed an optimization system called JalTantra that implements this model. It also has GIS functionality integrated for ease of providing network details. It is publicly available at http://www.cse.iitb.ac.in/jaltantra/ .
Autism Research, Jul 21, 2020
Nicotinic receptors are distributed throughout the central and peripheral nervous system. Postmor... more Nicotinic receptors are distributed throughout the central and peripheral nervous system. Postmortem studies have reported that some nicotinic receptor subtypes are altered in the brains of autistic people. Recent studies have demonstrated the importance of nicotinic acetylcholine receptors (nAChRs) in the autistic behavior of BTBR T + tf/J mouse model of autism. This study was undertaken to examine the behavioral effects of targeted nAChRs using pharmacological ligands, including nicotine and mecamylamine in BTBR T + tf/J and C57BL/6J mice in a panel of behavioral tests relating to autism. These behavioral tests included the three-chamber social interaction, self-grooming, marble burying, locomotor activity, and rotarod test. We examined the effect of various oral doses of nicotine (50, 100, and 400 mcg/mL; po) over a period of 2 weeks in BTBR T + tf/J mouse model. The results indicated that the chronic administration of nicotine modulated sociability and repetitive behavior in BTBR T + tf/J mice while no effects observed in C57BL/6J mice. Furthermore, the nonselective nAChR antagonist, mecamylamine, reversed nicotine effects on sociability and increased repetitive behaviors in BTBR T + tf/J mice. Overall, the findings indicate that the pharmacological modulation of nicotinic receptors is involved in modulating core behavioral phenotypes in the BTBR T + tf/J mouse model.
JMIR pediatrics and parenting, Nov 15, 2018
Autism spectrum disorders (ASD) are the most-prevalent neurodevelopmental disorders. However, eac... more Autism spectrum disorders (ASD) are the most-prevalent neurodevelopmental disorders. However, each child diagnosed with ASD presents with a unique range of behavioral and communication problems and issues with social skills. Many studies have highlighted the importance of early interventions for children with ASD to improve their skills and provide their families with the necessary support. However, in the Kingdom of Saudi Arabia (KSA), the earliest that a child with ASD in the major cities receives an intervention is at the age of 4 years, owing to limited services and a lack of awareness of the importance and benefits of early interventions. Families who live in rural areas of KSA arguably have a greater need for these services, as they have to travel to cities such as Riyadh for help. The use of telehealth services may be effective for ASD intervention among children living in rural areas, since such services use technology to provide consultations, interventions, diagnosis, training, and education. Research indicates that telehealth services are as valuable as traditional face-to-face treatment, allow families to obtain support from their homes, and help them improve their quality of life. This review will discuss the application of telehealth services to support families in rural areas of KSA who are dealing with issues of ASD, considering the cultural and religious contexts. In addition, it will examine ways in which technology can be employed to suit KSA's culture and needs.
Research Square (Research Square), Feb 25, 2022
Objectives: Research examining the age of diagnosis of autism spectrum disorder (ASD) and its in ... more Objectives: Research examining the age of diagnosis of autism spectrum disorder (ASD) and its in uencing factors mostly originate from developed Western countries, providing little to no systematic information about the understanding and management of ASD in the rest of the world. The present exploratory study examined the in uence of child and family characteristics on the age of ASD diagnosis in Saudi Arabia. Results: The median age at diagnosis was 3.0 years and was associated with some child and family characteristics. A one-year increase in child's age was associated with a 0.1-year increase in age of diagnosis (95% CI: 0.05, 0.12). Children who did not respond to their name were diagnosed 0.3 years earlier than other children (95% CI:-0.60,-0.05), and engaging in challenging behavior was associated with a 0.5-year increase in age of diagnosis (95% CI: 0.20, 0.81). A lack of comorbidity was associated with a 0.6-year increase in the age of diagnosis compared to the diagnosis age of children with comorbidity (95% CI: 0.13, 1.01). Finally, those residing outside of Saudi Arabia were diagnosed with ASD 0.9 years earlier than those residing in Saudi Arabia (95% CI:-0.171,-0.11).
Cureus, Dec 22, 2021
Forkhead box protein 1 (FOXP1) (OMIM: 605515) is located at chromosomal region 3p14.1, which code... more Forkhead box protein 1 (FOXP1) (OMIM: 605515) is located at chromosomal region 3p14.1, which codes for a transcriptional repressor protein. FOXP1 syndrome (FOXP1S) (OMIM #613670) is caused by FOXP1 gene deletions and mutations (nonsense, missense, and in-frame deletions). It is identified by the presence of intellectual disability with language impairment, with or without autistic features. This paper describes the case of a seven-year-old girl mainly presenting with autism spectrum disorder, language impairment, and intellectual disability. In addition, she also exhibited signs of attention deficit hyperactivity disorder. Whole-exome sequencing showed that she had a mutation in the FOXP1 gene; the variant revealed was FOXP1: NM_001244813 with a deleted segment (1152-1164) of exon 11. Subsequently, she was diagnosed with FOXP1 syndrome. In order to manage behavioral disturbance, risperidone was given, and she showed marked improvement. In this article, we report the characteristic features of attention deficits hyperactivity in addition to previously reported autism spectrum disorder with language impairment accompanied by intellectual disability caused by FOXP1 exon deletion. This study aims to provide a systematic, comprehensive presentation of a patient with a FOXP1 mutation to contribute to the existing literature on this subject.
DOAJ (DOAJ: Directory of Open Access Journals), Mar 1, 2022
Journal of Neurology and Neuroscience, 2018
Cavitating leukoencephalopathy is a group of disorders caused by multiple mitochondria dysfunctio... more Cavitating leukoencephalopathy is a group of disorders caused by multiple mitochondria dysfunction syndrome (MMDS). Multiple genetic mutations have been identified in its etiology including a mutation in the IBA57 gene on chromosome 1q42. We present the case of a 5-month-old boy who was diagnosed with progressive cavitating leukoencephalopathy at King Faisal specialist Hospital, Riyadh city, Saudi Arabia. The patient presented with frequent excessive crying since birth. He also had a history of abnormal movement described as tonic spasm of the upper limbs for few second, delayed developmental milestones, and regression of the achieved milestones. Neurological examination of the patient was positive for horizontal eye nystagmus and optic nerve atrophy, exaggerated gag response, spastic tone that was more prevalent in the upper limbs, and bilateral clonus. The patient showed abnormal findings on MRI including cavitation and cystic leukodystrophy, and homozygosity mapping showed the IBA57 gene mutation. The patient died at the age of 7 months from progressive respiratory failure. MMDS is a rare condition, and according to available data, this case of MMDS is the first to be reported in Saudi Arabia and in the Gulf region.
Saudi Medical Journal, Aug 1, 2021
To assess how clinical services are accessed and utilized by young children with suspected autism... more To assess how clinical services are accessed and utilized by young children with suspected autism spectrum disorder (ASD) and identifying factors that prevent the early identification of developmental concerns and diagnosis. Methods: This retrospective study examined the sociodemographic and clinical characteristics of a convenience sample of children diagnosed with ASD at the Center for Autism Research, Riyadh, Saudi Arabia between 2016 and 2018. The characteristics of ASD assessment and intervention service use were examined. Original Article Additionally, we examined the association between sociodemographic, clinical, and service use variables with the child's age at the time of the parent's initial concern and first ASD diagnosis, and the time from first concern to diagnosis. Results: Out of 127 cases, 67 were diagnosed with ASD (mean: 46.88 months, SD: 18.88, median: 42.00, range, 19-93). Most ASD cases had one previous assessment (n=28, 41.8%). Higher sibling numbers were associated with a later age of first concern (p=0.0278). Applied behavior analysis service utilization was associated with later age of first ASD diagnosis (p=0.0336) and longer time to ASD diagnosis (p=0.0301). Conclusion: Larger sample size is needed to further investigate whether these findings are representative of the national experience. Community-based intervention outcome studies should assess the quality of services being provided.
Neurosciences
Objectives: To describe the complex phenotype of ATP1A3 and second to report new mutation of ATP1... more Objectives: To describe the complex phenotype of ATP1A3 and second to report new mutation of ATP1A3. Methods: This is a retrospective chart review of 7 patients who was diagnosed with ATP1A3 mutation based on whole exome sequencing)WES(result and the following information were collected; age, age of onset, developmental ability, seizure type, family history, MRI, WES report. The data collection started
Journal of Trace Elements in Medicine and Biology
International Journal of Hygiene and Environmental Health
Children
Background: There is a large gap between the needs of individuals diagnosed with autism spectrum ... more Background: There is a large gap between the needs of individuals diagnosed with autism spectrum disorder (ASD) and the currently available services in Saudi Arabia. Services are often difficult to access, inconsistent in quality, incomplete, unsatisfactory, and costly. As such, there is a national need for expert consensus on the appropriate standards for the assessment and management of children on the autism spectrum. Methodology: A guideline development group (GDC) was formed by professionals representing all related specialties and institutions involved in the management of individuals on the autism spectrum in Saudi Arabia. They met on a regular basis over 21 months. The guideline development process consisted of five steps starting from reviewing existing guidelines and ending with discussing and writing this manuscript. A formal voting process was utilized and recommendations were discussed until a consensus was reached. Results: There was consensus on the following: A speci...
Pesquisa Brasileira em Odontopediatria e Clínica Integrada, 2020
Journal of Early Intervention, Jul 27, 2018
A randomized controlled trial was conducted to assess the feasibility of Responsive Teaching (RT)... more A randomized controlled trial was conducted to assess the feasibility of Responsive Teaching (RT) with a sample of 28 Saudi Arabian preschool-aged children with diagnoses of autism and their mothers over a 4-month period of time. RT is an early intervention curriculum that attempts to promote children's development by encouraging parents to engage in highly responsive interactions. Subjects were randomly assigned to treatment conditions: the Control group received standard community services; the RT group received weekly RT parent-child sessions in addition to standard services. Consistent with the focus of the intervention, RT mothers made significantly greater increases in Responsiveness and Affect than Control group mothers. There were also significant group differences in pre-and posttreatment measures of children's language and social and fine motor developmental scores. On average, the developmental improvements observed for RT children were 44% greater for social development, 37% greater for language development, and 24% greater for fine motor development than the improvements observed for Control group children. Implications of these findings for providing early intervention services for young children with autism and are discussed.
International Journal of Disability Development and Education, Aug 15, 2018
This investigation examined the consequences and effects of the severity of mothers psychosocial ... more This investigation examined the consequences and effects of the severity of mothers psychosocial functioning as assessed by measures parenting stress and depression in a randomised control trial of a Relationship-based Intervention (RBI) called Responsive Teaching (RT). The sample included 28 parents and preschool aged children with Autism from Saudi Arabia. RT subjects received weekly parentchild intervention sessions for 4 months. Dependent variables were mothers' style of interaction as assessed by the PICCOLO at post intervention as well as pre-and post-measures of parenting stress and depression. There were three findings from this study. First, mothers who participated in this study had extremely high levels of psychosocial dysfunction. Nearly all reported clinical levels of parenting stress and more than 40% reported clinical levels of depressive symptoms. Second, high levels of psychosocial dysfunction did not prevent mothers from participating in RT as indicated by their ability to integrate RT strategies into their interactions with their children. Third, RT was associated with substantial improvements in mother's parenting stress and depression. Implication for early intervention practice are discussed.