Asperger's Syndrome is a distinct variant of autism, with a prevalence rate of 10 to 26 per 10,000 of normal intelligence, and 0.4 per 10,000 in those with mild mental retardation. The syndrome now has its own clinical entity and diagnostic criteria. It is being officially listed in the ICD-10 under pervasive developmental disorder. Two such cases are described in this article. Case One lacked the ability to relate to others, was excessively preoccupied with the late actor P. Ramlee and demonstrated a peculiar behaviour of holding on to toothbrushes in his early childhood. Cognitively, he was unable to synthesise words into meaningful sentences. Similarly, Case Two was unable to relate well to others and was preoccupied with the planets and its constellations. Though he appeared intelligent with an IQ score of 101, he was unable to follow instructions at school. Both children had motor clumsiness and fulfilled the criteria for the diagnosis of Asperger's Syndrome.
Objective: To investigate the prevalence of parental stress and psychological wellbeing among parents with autistic children and their associations with dimensions of support system.
Methods: This is a preliminary cross sectional study which randomly selected parents with clinically diagnosed autistic children. Those parents who attended psycho-education session on management of autistic children at Health Psychology Unit were randomly selected to enroll in the study. Psychological wellbeing, parental stress and dimensions of support system were assessed by using the General Health Questionnaire (GHQ-28), the Parenting Stress Index (PSI) and the Provision Social Relation (PSR), respectively.
Results: Of 52 parents with autistic children (34 female and 18 male), about 90.4% of parents had significant parenting stress, and 53.8% of parents showed clinical disturbance in psychological wellbeing. Gender (t=1.67, p=0.02) and occupation (F=4.78, p=0.01) showed statistically significant association with psychological wellbeing. No association found between other socio-demographic factors, parental stress and psychological wellbeing with dimensions of support system among parents with autistic children.
Conclusion: Parents with autistic children have high prevalence of stress and psychological disturbances. Interactions of various factors need to be acknowledged and considered in order to reduce the burden of parents with autistic children.
Most cases of adenylosuccinate lyase (ADSL OMIM 103050) deficiency reported to date are confined to the various European ethnic groups. We report on the first Malaysian case of ADSL deficiency, which appears also to be the first reported Asian case. The case was diagnosed among a cohort of 450 patients with clinical features of psychomotor retardation, global developmental delay, seizures, microcephaly and/or autistic behaviour. The patient presented with frequent convulsions and severe myoclonic jerk within the first few days of life and severe psychomotor retardation. The high performance liquid chromatography (HPLC) profile of the urine revealed the characteristic biochemical markers of succinyladenosine (S-Ado) and succinyl-aminoimidazole carboximide riboside (SAICAr). The urinary S-Ado/SAICAr ratio was found to be 1.02 (type I ADSL deficiency). The patient was compound heterozygous for two novel mutations, c.445C > G (p.R149G) and c.774_778insG (p.A260GfsX24).
Introduction More school children were referred for learning difficutly (LD), especially after the introduction of LINUS sccreening programme by Ministry of Education Malaysia.
Aims To study the clinical diagnosis and non-verbal ability of primary-one school children with LD after paediatric assessment, as well as associated behavioural issues and socio-economincal background.
Methods Assessment findings by Paediatricians and Naglieri Non-Verbal Ability Test®(NNAT®) results of all primary-one school children referred in year 2010 with LD were studied retrospectively.
Results Ninety-three children were included (62.4% male), and 72.0% of them failed the LINUS screening programme. The commonest diagnoses were Borderline Intellectual Disability (ID, 37.6%) and Mild ID (19.4%). Other diagnoses included Attention Deficit Hyperactive Disorder (ADHD, 11.8%), Specific Learning Disability (SLD, 10.8%), Autistic Spectrum Disorder (n = 5) and Severe Language Disorder (n = 3). Mean NNAT scores were 84.6 ± 11.8 (n = 85), of which 9.4% children scored less than 70 (
In this report, we describe a 15-year-old Malaysian male patient with a de novo SCN1A mutation who experienced prolonged febrile seizures after his first seizure at 6 months of age. This boy had generalized tonic clonic seizure (GTCS) which occurred with and without fever. Sequencing analysis of voltage-gated sodium channel a1-subunit gene, SCN1A, confirmed a homozygous A to G change at nucleotide 5197 (c.5197A > G) in exon 26 resulting in amino acid substitution of asparagines to aspartate at codon 1733 of sodium channel. The mutation identified in this patient is located in the pore-forming loop of SCN1A and this case report suggests missense mutation in pore-forming loop causes generalized epilepsy with febrile seizure plus (GEFS+) with clinically more severe neurologic phenotype including intellectual disabilities (mental retardation and autism features) and neuropsychiatric disease (anxiety disorder).
The disorder of autism is widely recognised throughout the world. However, the diagnostic criteria and theories of autism are based on research predominantly conducted in Western cultures. Here we compare the expression of autistic traits in a sample of neurotypical individuals from one Western culture (UK) and two Eastern cultures (India and Malaysia), using the Autism-spectrum Quotient (AQ) in order to identify possible cultural differences in the expression of autistic traits. Behaviours associated with autistic traits were reported to a greater extent in the Eastern cultures than the Western culture. Males scored higher than females and science students scored higher than non-science students in each culture. Indian students scored higher than both other groups on the Imagination sub-scale, Malaysian students scored higher than both other groups on the Attention Switching sub-scale. The underlying factor structures of the AQ for each population were derived and discussed.
Objective: Parents’ positive attitudes and psychological wellbeing play an important role in the development of the children with developmental disability. This study aimed to measure the prevalence of psychological problems among mothers of children with autism disorder, intellectual disability, and Down syndrome. The second aim was to assess the differences in mothers’ attitudes and psychological problems among their children with intellectual disability, autism disorder, and Down syndrome. The third aim was to identify whether negative attitude was a predictor of psychological problems in these mothers.
Methods: In this study, 112 mothers of children having mild and moderate levels of autism disorder, Down syndrome, and intellectual disability were assessed using the Parental Attitude Scale and General Health Questionnaire–28.
Results: Overall, mothers of children with intellectual disability were found to have the most negative attitude towards their child. Mothers of children with autism disorder exhibited higher scores on somatic symptoms, anxiety, and social dysfunction when compared with their counterparts with Down syndrome and intellectual disability. Negative attitude was a significant predictor of psychological problems.
Conclusion: Parental attitudes and psychological problems would vary among mothers of children with different types of developmental disability.
Key words: Autistic disorder; Down syndrome; Intellectual disability; Mothers
Neurodegenerative diseases are characterized by protein aggregates and inflammation as well as oxidative stress in the central nervous system (CNS). Multiple biological processes are linked to neurodegenerative diseases such as depletion or insufficient synthesis of neurotransmitters, oxidative stress, abnormal ubiquitination. Furthermore, damaging of blood brain barrier (BBB) in the CNS also leads to various CNS-related diseases. Even though synthetic drugs are used for the management of Alzheimer's disease, Parkinson's disease, autism, and many other chronic illnesses, they are not without side effects. The attentions of researchers have been inclined towards the phytochemicals, many of which have minimal side effects. Phytochemicals are promising therapeutic agents because many phytochemicals have anti-inflammatory, antioxidative as well as anticholinesterase activities. Various drugs of either synthetic or natural origin applied in the treatment of brain disorders need to cross the BBB before they can be used. This paper covers various researches related to phytochemicals used in the management of neurodegenerative disorders.
Ankrd11 is a potential chromatin regulator implicated in neural development and autism spectrum disorder (ASD) with no known function in the brain. Here, we show that knockdown of Ankrd11 in developing murine or human cortical neural precursors caused decreased proliferation, reduced neurogenesis, and aberrant neuronal positioning. Similar cellular phenotypes and aberrant ASD-like behaviors were observed in Yoda mice carrying a point mutation in the Ankrd11 HDAC-binding domain. Consistent with a role for Ankrd11 in histone acetylation, Ankrd11 was associated with chromatin and colocalized with HDAC3, and expression and histone acetylation of Ankrd11 target genes were altered in Yoda neural precursors. Moreover, the Ankrd11 knockdown-mediated decrease in precursor proliferation was rescued by inhibiting histone acetyltransferase activity or expressing HDAC3. Thus, Ankrd11 is a crucial chromatin regulator that controls histone acetylation and gene expression during neural development, thereby providing a likely explanation for its association with cognitive dysfunction and ASD.
The effect of education on children with autism serves as a relative cure for their deficits. As a result of this, they require special techniques to gain their attention and interest in learning as compared to typical children. Several studies have shown that these children are visual learners. In this study, we proposed a Visual Hybrid Development Learning System (VHDLS) framework that is based on an instructional design model, multimedia cognitive learning theory, and learning style in order to guide software developers in developing learning systems for children with autism. The results from this study showed that the attention of children with autism increased more with the proposed VHDLS framework.
In this work, gene expression in autism spectrum disorder (ASD) is analyzed with the goal of selecting the most attributed genes and performing classification. The objective was achieved by utilizing a combination of various statistical filters and a wrapper-based geometric binary particle swarm optimization-support vector machine (GBPSO-SVM) algorithm. The utilization of different filters was accentuated by incorporating a mean and median ratio criterion to remove very similar genes. The results showed that the most discriminative genes that were identified in the first and last selection steps included the presence of a repetitive gene (CAPS2), which was assigned as the gene most highly related to ASD risk. The merged gene subset that was selected by the GBPSO-SVM algorithm was able to enhance the classification accuracy.
An adolescent with autism spectrum disorder and improperly treated attention deficit hyperactivity disorder presented with recurrent hair pulling. Treatment with selective serotonin reuptake inhibitor and stimulant improved these conditions.
Epilepsy is a chronic neurological disorder characterized by the rapid occurrence of epileptic seizures affecting approximately 70 million people worldwide[1,2]. The quality of life of people with epilepsy (PWE) is challenged by a series of comorbidities that might include neurologic and neuropsychiatric disorders (cognitive decline, depression, anxiety, schizophrenia, and autism) as well as metabolic, cardiovascular and respiratory diseases[3]. Neurobehavioral and other comorbidities might share a reciprocal and complex relationship with epileptogenesis and ictogenesis thus biomarkers of the former might be useful for the prediction of the latter and vice versa[4].
Background: This paper aimed to review the literature on the factors associated with parenting stress and resilience among parents of children with autism spectrum disorder (ASD) in the South East Asia (SEA) region. Methods: An extensive search of articles in multiple online databases (PsycNET, ProQuest, PudMed, EMBASE, CINAHL, Web of Science, and Google Scholar) resulted in 28 papers that met the inclusion criteria (i.e., conducted in the SEA region, specific to ASD only, published in a peer-reviewed journal, full text in English). Studies found were conducted in the following countries: Brunei, n = 1; Indonesia, n = 2; Malaysia, n = 12; Philippines, n = 5; Singapore, n = 5, Thailand, n = 2; and Vietnam, n = 1, but none from Cambodia, East Timor, Laos, and Myanmar were identified. Results: Across the studies, six main factors were found to be associated with parenting stress: social support, severity of autism symptoms, financial difficulty, parents' perception and understanding toward ASD, parents' anxiety and worries about their child's future, and religious beliefs. These six factors could also be categorized as either a source of parenting stress or a coping strategy/resilience mechanism that may attenuate parenting stress. Conclusion: The findings suggest that greater support services in Western countries may underlie the cultural differences observed in the SEA region. Limitations in the current review were identified. The limited number of studies yielded from the search suggests a need for expanded research on ASD and parenting stress, coping, and resilience in the SEA region especially in Cambodia, East Timor, Laos, and Myanmar. The identified stress and resilience factors may serve as sociocultural markers for clinicians, psychologists, and other professionals to consider when supporting parents of children with ASD.
Objective: The study was designed to determine the risk perception of the public population in Kota Kinabalu towards childhood immunisation.
Methodology: This was a cross-sectional study where self-administered questionnaires were distributed to the public in Kota Kinabalu. The respondents who consented were 18 years old and older. The illiterate persons and the foreigners were excluded. The calculated sample size was 400. Only 313 samples collected were suitable for analysis using SPSS v21.0.
Results: Fever, pain swelling and allergic reaction were correctly identified as risks of immunisation. Autism, mental retardation and even death could also result from vaccination. Of the total respondents, 76.7% agreed with the practice of childhood vaccination, 70.0% thought that childhood vaccinations were safe and effective and 58.1% felt that its benefit outweighed the risk. Other than that, 32.0% refused childhood vaccination from fear of its risks, and this fear was the main reason for the refusal of childhood vaccination. Age, marital status, race and income were the factors which influenced parental willingness to vaccinate their children (p<0.05).
Conclusions: Most participants understood the risks of childhood vaccination, but few agreed to the practice of childhood immunisation for herd immunity. Public health campaigns are needed, to increase the understanding and acceptance of childhood vaccination especially in the rural community.
Keywords: Childhood Immunisation, Parental Risk, Perception, Public Acceptance
GABAA receptors are the major inhibitory neurotransmitter receptor in the human brain. The receptors are assembled from combination of protein subunits in pentameric complex which may consist of α1-6, β1-3, γ1-3, ρ1-3, δ, ε, θ, or π subunits. There are a theoretical > 150,000 possible assemblies and arrangements of GABAA subunits, although only a few combinations have been found in human with the most dominant consists of 2α1, 2β2, and 1γ2 in a counterclockwise arrangement as seen from the synaptic cleft. The receptors also possess binding sites for various unrelated substances including benzodiazepines, barbiturates, and anesthetics. The α5-containing GABAARs only make up ≤ 5% of the entire receptor population, but up to 25% of the receptor subtype is located in the crucial learning and memory-associated area of the brain-the hippocampus, which has ignited myriads of hypotheses and theories in regard to its role. As well as exhibiting synaptic phasic inhibition, the α5-containing receptors are also extrasynaptic and mediate tonic inhibition with continuously occurring smaller amplitude. Studies on negative-allosteric modulators for reducing this tonic inhibition have been shown to enhance learning and memory in neurological disorders such as schizophrenia, Down syndrome, and autism with a possible alternative benzodiazepine binding site. Therefore, a few α5 subunit-specific compounds have been developed to address these pharmacological needs. With its small population, the α5-containing receptors could be the key and also the answer for many untreated cognitive dysfunctions and disorders.
Introduction: The number of children diagnosed with Autism Spectrum Disorder (ASD) keeps increasing every year. ASD is a neurodevelopmental disability that affects social communication and social interaction. They also demon-strate restricted, repetitive pattern of behaviour, interest or activities (RRB) that shows at an early developmental age. Due to this characteristic, ASD children are facing difficulties in social skills aspect such as eye contact, expression, and making friends. Studying and reciting the Quran are often used in Malaysia to ameliorate the symptoms, but there is no specific study in Malaysia that demonstrates the impact of these renditions on ASD’s children’s social skills. The objective of this study was to investigate the effect selected Qur’anic verses recitation on the social skills of the children with Autism Spectrum Disorder (ASD). Methods: This study will use the quasi-experimental research design. This study will be held at IDEAS Autism Centre, Rawang. The purposive sampling technique will be used and 14 ASD Muslim children aged 4-6 years old will be chosen. The ASD children will be divided into an experimental and control group. The experimental group will be listening to selected Qur’anic verses before the intervention. The Social Responsiveness Scale- Second Edition (SRS-2) will be used to assess the response. The scale consists of a 65-item questionnaire, with a 4-point Likert-scale. Results: The expected result for this study is the ASD children in the experimental group will have lower Total-scores of SRS-2 compared to control group. Conclusion: Listening to Qur’anic recitation provides a cost-effective complementary therapy to improve social skills among Muslim ASD children. Information from this study also can be used as a stepping stone in developing the teaching module to ASD children.