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Introduction
Skills and Expertise
Publications
Publications (93)
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...
This prospective study assessed the exposure to phthalates of preterm neonates who received total parenteral nutrition (TPN) during their stay in the neonatal intensive care unit (NICU) and the risk of neurodevelopment delays at the age of 2 months. Our study recruited 33 preterm neonates who required TPN upon NICU admission. Urine samples for anal...
Background:
Premature neonates might be exposed to toxic metals during their stay in the neonatal intensive care unit (NICU), which could adversely affect neurodevelopment; however, limited evidence is available. The present study was therefore designed to assess the exposure to mercury, lead, cadmium, arsenic, and manganese of preterm neonates wh...
Background:
SLC13A5 (solute carrier family 13, member 5) encodes sodium/citrate cotransporter, which mainly localizes in cellular plasma membranes in the frontal cortex, retina, and liver. Pathogenic variants of the gene cause an autosomal recessive syndrome known as "developmental and epileptic encephalopathy 25 with amelogenesis imperfecta."
Re...
Algothmi K, Alqurashi A, Alrofaidi A, et al. Pharmgenomics Pers Med. 2022;15:131–142.
The authors have advised affiliation 4 on page 131 is incorrect. The correct affiliation should read “Medical Laboratory Technology Department, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia”.
The authors apologize for this er...
Phthalates are widely used plasticizers in various consumer products and medical devices, with some reporting as having estrogenic and anti-androgenic endocrine-disrupting effects. Premature neonates may be exposed to high levels of specific phthalates during hospitalization in the neonatal intensive care unit (NICU) because of reliance on multiple...
Objective:
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that represents a range of aberrant behaviour symptoms such as repetitive behaviours and defects in social communication. The prevalence of ASD has been increasing worldwide and many studies have reported that both genetic and epigenetic factors play an important role in th...
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 stan...
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...
Background:
DNA methylation (DNAm) is one of the main epigenetic mechanisms that affects gene expression without changing the underlying DNA sequence. Aberrant DNAm has an implication in different human diseases such as cancer, schizophrenia, and autism spectrum disorder (ASD). ASD is a neurodevelopmental disorder that affects behavior, learning,...
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...
Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analysing possible predictors for adverse clinical outcome. We investig...
Pathogenic variants in GEMIN4 contribute to a hereditary disorder characterized by neurodevelopmental features, microcephaly, cataracts, and renal abnormalities (known as NEDMCR). To date, only two homoallelic variations have been linked to the disease. Moreover, clinical features associated with the variants have not been fully elucidated yet. Her...
Background
Molecular autopsy refers to DNA-based identification of the cause of death. Despite recent attempts to broaden its scope, the term remains typically reserved to sudden unexplained death in young adults. In this study, we aim to showcase the utility of molecular autopsy in defining lethal variants in humans.
Methods
We describe our exper...
Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually presents in toddler years with progressive ataxia and oculomotor apraxia, or less commonly, in the late‐first or early‐second decade of life with mixed movement disorders. Biallelic mutations in ataxia telangiectasia mutated gene (ATM) cause AT phenotype, a...
Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregation of macromolecules and organelles and are linked to human disease. VPS proteins function as part of...
Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregation of macromolecules and organelles and are linked to human disease. VPS proteins function as part of...
We recently adapted the published National Institute for Health and Care Excellence (NICE) Attention deficit hyperactivity disorder (ADHD) diagnosis and management guideline to the Saudi Arabian context. It has been postulated that adaptation of evidence-based clinical practice guidelines to the local healthcare context rather than de-novo developm...
Phthalates are the most ubiquitous contaminants that we are exposed to daily due to their wide use as plasticizers in various consumer products. A few studies have suggested that in utero exposure to phthalates can disturb fetal growth and development in humans, because phthalates can interfere with endocrine function. We collected spot urine sampl...
Vagus nerve stimulation (VNS) is an approved adjunctive therapy for refractory epilepsy and used in patients who are not candidates for resective epilepsy surgery. In Saudi Arabia, VNS device implantation is being performed since 2008 by several comprehensive epilepsy programs, but with variable protocols. Therefore, to standardize the use of VNS,...
PURPOSE
Bi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we aim to provide a comprehensive clinical description and variant interpretation framework.
METHODS
Through an international collaboration, we identified 13 individuals from 12 families w...
Background
There are few standardized and validated tools to evaluate sensory processing difficulties in Arabic countries. The purpose of this study was to evaluate the psychometric properties of Arabic versions of the Home and Preschool- Home versions of the Sensory Processing Measure(SPM), an instrument widely used for clinical and research purpo...
This follow-up study of 82 children investigated the potential impact of early and recent exposure to mercury and lead on their neurodevelopmental performance at 5-8 years of age (2017-2018). Early exposure of these children to mercury, methylmercury, and lead was assessed during lactation at 3-12 months old, as well as their mother's exposure usin...
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 pati...
Background Some studies have suggested that tumor pathology significantly influence freedom from seizures post epilepsy surgery; however, there is no consensus among researchers regarding this issue. This study aims to retrospectively look for different types of tumor- related epilepsy and their outcomes in the first-year post epilepsy surgery amon...
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 m...
Background: We recently adapted the published National institute for Health and Care Excellence (NICE) Attention deficit hyperactivity disorder (ADHD) diagnosis and management guideline to the Saudi Arabian context. It has been postulated that adaptation of evidence-based clinical practice guidelines to the local healthcare context rather than de-n...
Background: We recently adapted the published National institute for Health and Care Excellence (NICE) Attention deficit hyperactivity disorder (ADHD) diagnosis and management guideline to the Saudi Arabian context. It has been postulated that adaptation of evidence-based clinical practice guidelines to the local healthcare context rather than de-n...
Background: We recently adapted the published National institute for Health and Care Excellence (NICE) Attention deficit hyperactivity disorder (ADHD) diagnosis and management guideline to the Saudi Arabian context. It has been postulated that adaptation of evidence-based clinical practice guidelines to the local healthcare context rather than de-n...
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 m...
Rett syndrome (RTT) is a severe neurodevelopmental disorder reported worldwide in diverse populations. RTT is diagnosed primarily in females, with clinical findings manifesting early in life. Despite the variable rates across populations, RTT has an estimated prevalence of ∼1 in 10,000 live female births. Among 215 Saudi Arabian patients with neuro...
Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families presenting with epileptic encephalopathy with developmental delay and hypotonia. UGDH encodes an oxidoreduc...
Objective:
To assess the knowledge, attitudes, and practice regarding oral health care among parents of autistic children and also the challenges faced by them in providing dental care for their Autism Spectrum Disorders (ASD) children’s in four regions of Kingdom of Saudi Arabia.
Material and Methods:
In total, 263 parents of autistic children pa...
Filtering of unwanted signals has a great impact on the performance of EEG signal processing applied to neurological disorders diagnosis. It is so difficult to remove undesirable noises using static filtering approaches as the performance of such techniques is strongly relying on specific EEG signal sub-bands, whose locations differ from one subjec...
(The American Journal of Human Genetics 104, 1182–1201; June 6, 2019) The online version of the above article has been updated on October 3, 2019 with the following changes: (1) Dr. Malak Althagafi's name has been removed from the author list upon her request and (2) Tables 1–4 and S1–S11 and related text have been resupplied with new patient ident...
We report two consanguineous families with probands that exhibit intellectual disability, developmental delay, short stature, aphasia, and hypotonia in which homozygous non-synonymous variants were identified in IQSEC1 (GenBank: NM_001134382.3). In a Pakistani family, the IQSEC1 segregating variant is c.1028C>T (p.Thr343Met), while in a Saudi Arabi...
Background:
Children diagnosed with autism spectrum disorder (ASD) have social and cognitive disabilities. For parents, these behaviors can lead to humiliation, social exclusion, and isolation. Stigma is a problem that not only may affect the individual with high functioning autism, but has the potential to extend to their family as well. Indeed,...
We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we propose to be recessive, disease-related candidates. We report additional mutational events in 64 pr...
We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we propose to be recessive, disease-related candidates. We report additional mutational events in 64 pr...
Proteins anchored to the cell surface via glycosylphosphatidylinositol (GPI) play various key roles in the human body, particularly in development and neurogenesis. As such, many developmental disorders are caused by mutations in genes involved in the GPI biosynthesis and remodeling pathway. We describe ten unrelated families with bi-allelic mutati...
We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we propose to be recessive, disease-related candidates. We report additional mutational events in 64 pr...
Validated screening and diagnostic tools for autism spectrum disorder for use in Arabic-speaking individuals are scarce. This study validated the Arabic version of the Social Communication Questionnaire. The total study sample included 206 children with autism spectrum disorder and 206 typically developing children (73.8% male; mean age: 8.5 (stand...
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...
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic neurocutaneous disorder, with heterogeneous manifestations. We aimed to review the clinical presentation of TSC and its association with epilepsy among Saudi population. This was a retrospective chart review study of 88 patients diagnosed with TSC with or without epilepsy. In 38.6% o...
The diagnosis of epilepsy depends heavily on detailed history and timely observation. Several non-epileptic causes of paroxysmal events can be confused with recurrent seizures [epilepsy mimickers]. These include gastro-esophageal reflux, breath holding spells, self-gratification, movement disorders, and others. In this paper we present four childre...
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 Sau...
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...
UNSTRUCTURED
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 skill...
Temtamy syndrome is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of the corpus callosum. After we initially mapped the disease to C12orf57, we noted a high carrier frequency of an ancient startloss founder mutation [c.1A>G; p.M1?] in our population, and variable phenotypic expressivity in...
Variant nomenclature discrepancy was identified in the article.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic and clinical heterogeneity. The interplay of de novo and inherited rare variants has been suspected in the development of ASD. Here, we applied whole exome sequencing (WES) on 19 trios from singleton Saudi families with ASD. We developed an analysis pipeline that a...
Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent years thanks to the implementation of genomic sequencing techniques. In this study, we describe the phenotypic and genetic findings of 68 families (105 patients) all with novel ID-related varia...
Objective:
To determine optimal interstimulus interval (ISI) and pulse duration (D) for direct cortical stimulation (DCS) motor evoked potentials (MEPs) based on rheobase and chronaxie derived with two techniques.
Methods:
In 20 patients under propofol/remifentanil anesthesia, 5-pulse DCS thenar MEP rheobase and chronaxie with 2, 3, 4 and 5ms IS...
In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016–December 2016 comprising 972 solo (index only), 14 duo (parents or affected sibli...
We retrospectively reviewed Saudi patients who had a congenital disorder of glycosylation (CDG). Twenty-seven Saudi patients (14 males, 13 females) from 13 unrelated families were identified. Based on molecular studies, the 27 CDG patients were classified into different subtypes: ALG9-CDG (8 patients, 29.5%), ALG3-CDG (7 patients, 26%), COG6-CDG (7...
The present study evaluates the effects of a behavioral skill training package on parent implementation of discrete trial teaching with their children with autism spectrum disorder. Three mothers of children with autism participated in the study. The training package improved implementation for all three of the mothers. Moreover, these improvements...
Little information is available about autism spectrum disorder services in the Kingdom of Saudi Arabia. A sample of 205 parents completed an online survey about the use of autism spectrum disorder services for their children. The results revealed that on average, children began services by 3.3 years. Most parents reported utilizing non-medical trea...
Identifying parents’ treatment priorities prior to treatment planning is critical. No information about parents’ treatment priorities for their children with ASD in the Arab World. To identify the treatment priorities that parents in the KSA have for their children with ASD. A second aim of the study was to determine whether child characteristics r...
Backgrounds. Providing the autism spectrum disorders (ASD) diagnosis early in childhood warrants access to early intervention programs, yet many children are not diagnosed until later in life. While extensive buddy of research is available about factors affecting the age at ASD diagnosis in the western countries, little attention has been directed...
Background. Services for children with autism are limited in Saudi Arabia and little attention has been directed towards examining the factors associated with the use of available ones. Methods. An online parent survey was developed to identify factors that impact the use of services in Saudi Arabia. The survey was distributed by local professional...
Autistic spectrum disorder (ASD) is a complex neurodevelopmental disorder that results in social and communication impairments, as well as repetitive and stereotyped patterns. Genetically, ASD has been described as a multifactorial genetic disorder. The aim of the present study was to investigate possible susceptibility loci of ASD, utilizing the h...
Neurogenetic disorders represent the largest category of Mendelian diseases in humans. They encompass a wide array of clinical presentations that range from the common e.g., intellectual disability (>1%) to the very rare, e.g., neurodegeneration with brain iron accumulation (one to three per 106) (Kalman et al., 2012 and Maulik et al., 2011). The h...
