Search results for: x-linked disorder

Authors: Sinead Morrison, Ann Swillen, Therese Van Amelsvoort, Samuel Chawner, Elfi Vergaelen, Michael Owen, Marianne Van Den Bree

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22q11.2 Deletion Syndrome (22q11.2DS) is caused by the deletion of approximately 60 genes on chromosome 22 and is associated with high rates of neurodevelopmental disorders such as Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorders (ASD). The presentation of these disorders in 22q11.2DS is reported to be comparable to idiopathic forms and therefore presents a valuable model for understanding mechanisms of neurodevelopmental disorders. Cognitive deficits are thought to be a core feature of neurodevelopmental disorders, and possibly manifest in behavioural and emotional problems. There have been mixed findings in 22q11.2DS on whether the presence of ADHD or ASD is associated with greater cognitive deficits. Furthermore, the influence of developmental stage has never been taken into account. The aim was therefore to examine whether the presence of ADHD or ASD was associated with cognitive deficits in childhood and/or adolescence in 22q11.2DS. We conducted the largest study to date of this kind in 22q11.2DS. The same battery of tasks measuring processing speed, attention and spatial working memory were completed by 135 participants with 22q11.2DS. Wechsler IQ tests were completed, yielding Full Scale (FSIQ), Verbal (VIQ) and Performance IQ (PIQ). Age-standardised difference scores were produced for each participant. Developmental stages were defined as children (6-10 years) and adolescents (10-18 years). ADHD diagnosis was ascertained from a semi-structured interview with a parent. ASD status was ascertained from a questionnaire completed by a parent. Interaction and main effects of cognitive performance of those with or without a diagnosis of ADHD or ASD in childhood or adolescence were conducted with 2x2 ANOVA. Significant interactions were followed up with t-tests of simple effects. Adolescents with ASD displayed greater deficits in all measures (processing speed, p = 0.022; sustained attention, p = 0.016; working memory, p = 0.006) than adolescents without ASD; there was no difference between children with and without ASD. There were no significant differences on IQ measures. Both children and adolescents with ADHD displayed greater deficits on sustained attention (p = 0.002) than those without ADHD. There were no significant differences on any other measures for ADHD. Magnitude of cognitive deficit in individuals with 22q11.2DS varied by cognitive domain, developmental stage and presence of neurodevelopmental disorder. Adolescents with 22q11.2DS and ASD showed greater deficits on all measures, which suggests there may be a sensitive period in childhood to acquire these domains, or reflect increasing social and academic demands in adolescence. The finding of poorer sustained attention in children and adolescents with ADHD supports previous research and suggests a specific deficit which can be separated from processing speed and working memory. This research provides unique insights into the association of ASD and ADHD with cognitive deficits in a group at high genomic risk of neurodevelopmental disorders.

Keywords: 22q11.2 deletion syndrome, attention deficit hyperactivity disorder, autism spectrum disorder, cognitive development

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Authors: Sajad Haghshenas

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Emerging evidence from clinical, genetic, and animal model studies suggests that the N-methyl-D-aspartate (NMDA) glutamate receptors (NMDAR) may contribute to the pathophysiology and aetiology of neurological and psychiatric disorders and the patients with impaired NMDR receptors experience psychological symptoms. Therefore, we hypothesised that NMDAR receptors play a key role in the development of attention deficit hyperactivity disorder (ADHD). In this comparative analytical study, we utilized western blotting method to assay the expression levels of NMDA subunits NR1 and NR2 in the blood plasma of 50 male individuals diagnosed with ADHD in comparison to 20 healthy controls. The findings from the western blotting analysis provide support for the hypothesis that individuals with ADHD exhibit significantly lower levels of NR1/2 receptors compared to those without the disorder. Further research is needed to explore the potential causal relationship between reduced NR1/NR2 receptor levels and the development of ADHD.

Keywords: expression, glutamate receptors, NR1, NR2, ADHD

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Authors: Swarkar Sharma, Ekta Rai, Ankit Mahajan, Parvinder Kumar, Manoj K Dhar, Sushil Razdan, Kumarasamy Thangaraj, Carol Wise, Shiro Ikegawa M.D., K.K. Pandita M.D.

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Rare disorders are poorly understood hence, remain uncharacterized or patients are misdiagnosed and get poor medical attention. A rare mysterious skeletal disorder that remained unidentified for decades and rendered many people physically challenged and disabled for life has been reported in an isolated remote village ‘Arai’ of Poonch district of Jammu and Kashmir. This village is located deep in mountains and the population residing in the region is highly consanguineous. In our survey of the region, 70 affected people were reported, showing similar phenotype, in the village with a population of approximately 5000 individuals. We were able to collect samples from two multi generational extended families from the village. Through Whole Exome sequencing (WES), we identified a rare variation NM_003880.3:c.156C>A NP_003871.1:p.Cys52Ter, which results in introduction of premature stop codon in WISP3 gene. We found this variation perfectly segregating with the disease in one of the family. However, this variation was absent in other family. Interestingly, a novel splice site mutation at position c.643+1G>A of WISP3 gene, perfectly segregating with the disease was observed in the second family. Thus, exploiting WES and putting different evidences together (familial histories and genetic data, clinical features, radiological and biochemical tests and findings), the disease has finally been diagnosed as a very rare recessive hereditary skeletal disease “Progressive Pseudorheumatoid Arthropathy of Childhood” (PPAC) also known as “Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy” (SEDT-PA). This genetic characterization and identification of the disease causing mutations will aid in genetic counseling, critically required to curb this rare disorder and to prevent its appearance in future generations in the population. Further, understanding of the role of WISP3 gene the biological pathways should help in developing treatment for the disorder.

Keywords: whole exome sequencing, Next Generation Sequencing, rare disorders

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Authors: Jennie Long, Marjorie Bock

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Although the professional literature related to Autism Spectrum Disorder (ASD) has focused on successful interventions and strategies, there is a lack of documentation regarding which of these methods and supports are most foundational and essential for classroom use. Specifically, literature does not define the core foundational interventions and strategies that would be elemental for educators to use with students with an ASD diagnosis. From the increase in prevalence of autism spectrum disorders, to the challenge students with ASD pose in classrooms, to the requirement to implement evidence-based practice, rises an enormous challenge in the field of education. Foundational interventions should be in place the first day the student enters the classroom. The nine interventions are foundational in nature and because of the dramatic increase in prevalence there is currently a need for classroom programs to provide the foundation of basic educational skills as well as the specialty skills specific to the area of ASD utilizing the most current research. This article presents nine evidence-based intervention categories for implementation with students on the spectrum.

Keywords: autism spectrum disorder, classroom, evidence-based, foundational

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Authors: Annabel Burnley, Michelle St. Clair, Charlotte Dack, Yvonne Wren

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Children with Developmental Language Disorder (DLD) are well documented to experience social and emotional difficulties. Despite this, there is little consensus as to how these difficulties manifest, without which the ability to develop prevention initiatives is limited. An online survey was completed by 107 parents of either child with DLD (‘DLD sample’; n=57), or typically developing children (‘typical sample’; n=50), all aged 6-12 years old. Psychosocial symptom measures were used, alongside 11 psychosocial statements generated from previous qualitative work. Qualitative interviews were then held to understand the manifestation of key difficulties in more depth (n=4). The DLD sample scored significantly higher on all psychosocial statements than the typical sample. Experiencing anxiety (80.7%), requiring routine and sameness (75.4%) and struggling to regulate their emotions (75.4%) were the most common difficulties for a majority of children with DLD. For this DLD sample, family communication and coping styles were found not to contribute to the manifestation of these difficulties. Two separate mediation models were run to understand the role of other psychosocial difficulties in the manifestation of (1) anxiety and (2) social frustration. ‘Intolerance of uncertainty was found to strongly mediate the relationship between DLD diagnosis and symptoms of anxiety. Emotion regulation was found to moderately mediate the relationship between DLD diagnosis and social frustration. Parents appear to cope well with their children’s complex psychosocial needs, but further external intervention is needed. Intervention focussing on intolerance of uncertainty and emotion dysregulation may help the management of anxiety and social frustration. Further research is needed to understand the children’s routined behaviors.

Keywords: psychosocial difficulties, developmental language disorder, specific language impairment, parent, anxiety

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Authors: Sidika McNeil

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Borderline personality disorder (BPD) is a personality disorder that has been found to have strong origins in childhood trauma. One of the key symptoms of BPD is an association with irregular moods swings, as well as suicidal ideation (SI). Owing to the typically severe trauma patients experience during childhood, it is hard for them to control their emotions and thus makes it hard to emotionally regulate. It is then very common for those suffering from BPD to turn to unhealthy coping mechanisms, such as substance use, unhealthy relationships, and more, often unsuccessfully creating experiences that facilitate safety which leads to further negative experiences. With the high suicide rating among children, adolescents, and teens, and an ever-increasing number of children being diagnosed with BPD, it is very important that more research is done to find further treatments for patients who are currently suffering. Methods: Utilizing data found in prior studies, this paper will analyze the literature to focus on a comprehensive treatment plan for those with DBT. It is currently suggested that with the use of dialectical behavioral therapy (DBT), a therapy that focuses on changing negative thinking patterns and pushes for more positive ones is helpful for treatment for those with BPD. Though this therapy is not a cure to BPD, it does help mitigate the risk; this essay will explore other options that can further the treatment process, such as cognitive analytical therapy (CAT), which focuses on delving into the past to find the root causes of an issue to create coping strategies and harm reduction, a type of therapy used to aid patients in lowering the use of substances without complete cessation. Results: The research provides enough evidence to link between the treatment of BPD with the utilization of CAT.

Keywords: borderline personality disorder, cognitive analytical therapy, dialectical behavioral therapy, harm reduction, suicidal ideation

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Authors: Melika Masjedi

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Post-Traumatic Stress Disorder (PTSD) has a significant impact on the mental health and relationship dynamics of couples, leading to decreased marital satisfaction. This study examines the mediating role of sexual and romantic relationship dynamics in relation to PTSD and marital satisfaction among Iranian couples. Using a sample of 107 participants, quantitative methods were utilized to assess variables such as relationship functioning, PTSD symptom severity, and the influence of sexual and romantic interactions. The findings demonstrate a strong correlation between heightened PTSD symptoms and reduced marital satisfaction, particularly in the domains of intimacy and emotional connection. The study highlights the importance of addressing relational dynamics to improve marital outcomes in PTSD-affected couples.

Keywords: intimacy, marital satisfaction, PTSD, relationship dynamics, trauma

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Authors: Abdulwahhab Khedr, Tamer Shehata, Hanaa El-Ghamry

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Venlafaxine HCl is a novel antidepressant drug used in the treatment of major depressive disorder, generalized anxiety disorder, social anxiety disorder and panic disorder. Conventional therapeutic regimens with venlafaxine HCl immediate-release dosage forms require frequent dosing due to short elimination half-life of the drug and reduced bioavailability. Hence, this study was carried out to develop sustained-release dosage forms of venlafaxine HCl to reduce its dosing frequency, to improve patient compliance and to reduce side effects of the drug. The polymers used were hydroxypropylmethyl cellulose, xanthan gum, sodium alginate, sodium carboxymethyl cellulose, Carbopol 940 and ethyl cellulose. The physical properties of the prepared tablets including tablet thickness, diameter, weight uniformity, content uniformity, hardness and friability were evaluated. Also, the in-vitro release of venlafaxine HCl from different matrix tablets was studied. Based on physical characters and in-vitro release profiles, certain formulae showing promising sustained-release profiles were subjected to film coating with 15% w/v EC in dichloromethane/ethanol mixture (1:1 ratio) using 1% w/v HPMC as pore former and 30% w/w dibutyl phthalate as plasticizer. The optimized formulations were investigated for drug-excipient compatibility using FTIR and DSC studies. Physical evaluation of the prepared tablets fulfilled the pharmacopoeial requirements for tablet friability test, where the weight loss of the prepared formulae did not exceed 1% of the weight of the tested tablets. Moderate release was obtained from tablets containing HPMC. FTIR and DSC studies for such formulae revealed the absence of any type of chemical interaction between venlafaxine HCl and the used polymers or excipients. Forced swimming test in rats was used to evaluate the antidepressant activity of the selected matrix tablets of venlafaxine HCl. Results showed that formulations significantly decreased the duration of animals’ immobility during the 24 hr-period of the test compared to non-treated group.

Keywords: antidepressant, sustained-release, matrix tablet, venlafaxine hydrochloride

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Authors: Larissa Pliska, Isabel Neitzel, Michael Buschermöhle, Olga Kunina-Habenicht, Ute Ritterfeld

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Visual preferences, which can be assessed using eye tracking technologies, are considered one of the defining hallmarks of Autism Spectrum Disorder (ASD). Specifically, children with ASD show a decreased preference for social images rather than geometric images compared to typically developed (TD) children. Such differences are already prevalent at a very early age and indicate the severity of the disorder: toddlers with ASD who preferred geometric images when confronted with social and geometric images showed higher ASD symptom severity than toddlers with ASD who showed higher social attention. Furthermore, the complexity of social pictures (one child playing vs. two children playing together) as well as the mode of stimulus presentation (video or image), are not decisive for the marker. The average age of diagnosis for ASD in Germany is 6.5 years, and visual preference data on this age group is missing. In the present study, we therefore investigated whether visual preferences persist into school age. We examined the visual preferences of 16 boys aged 6 to 11 with ASD and unimpaired cognition as well as TD children (1:1 matching based on children's age and the parent's level of education) within an experimental setting. Different stimulus presentation formats (images vs. videos) and different levels of stimulus complexity were included. Children with and without ASD received pairs of social and non-social images and video stimuli on a screen while eye movements (i.e., eye position and gaze direction) were recorded. For this specific use case, KIZMO GmbH developed a customized, native iOS app (KIZMO Face-Analyzer) for use on iPads. Neither the format of stimulus presentation nor the complexity of the social images had a significant effect on the visual preference of children with and without ASD in this study. Despite the tendency for a difference between the groups for the video stimuli, there were no significant differences. Overall, no statistical differences in visual preference occurred between boys with and without ASD, suggesting that gaze preference in these groups is similar at primary school age. One limitation is that the children with ASD were already receiving Autism-specific intervention. The potential of a visual preference task as an indicator of ASD can be emphasized. The article discusses the clinical relevance of this marker in elementary school children.

Keywords: autism spectrum disorder, eye tracking, hallmark, visual preference

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Authors: Mohammad Ibrahim

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The study was conducted at Albasar international foundation ophthalmic hospitals in Sudan to study the burden and patterns of ophthalmic disorder in the sector. Review of the hospitals records revealed that the total number of patient examined in the hospitals and outreached camps conducted by the hospitals is 10,513,874, the total number of surgeries is 694,015 and the total number of pupils at school program is 230,382. The organization working with the highest management system and standards and quality result based planning. The study yielded that the ophthalmic problem in Sudan are of great percentage and the temporal blindness disorder are high since major cases and surgeries were Cataract (57.8%). Retinal problem (2.9%), Glaucoma (2.4%), Orbit and Occulo-plastic disorders (2.2%) other disorders are refractive errors, squint and strabismus, Corneal, Pediatrics and minor ophthalmic disorders.

Keywords: hospitals and outreach ophthalmic services, largest coverage of ophthalmic services, nonprofitable ophthalmic services, strong management system and standards

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Authors: Aikaterini Tavoulari

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This research aims to address the types of repetitive behaviours (RBs) observed by adults in children with vision impairment (VI) or autism spectrum disorder (ASD), the explanations the adults employ to interpret these behaviours, and the impact RBs have on the child, the caregiver, the professional and society. The underlying reason for this is an attempt to discover any potential differences between two different disabilities in a comparative fashion. The study is based on the interpretivism paradigm and follows a qualitative approach. A comparative case study design based on the ecological systems theory (EST) is adopted. Thirty-five caregivers and accredited professionals were recruited (17 for the VI group, out of whom 8 were caregivers and 9 were professionals, and 18 for the ASD group, out of whom 9 were caregivers and 9 were professionals). Following the completion of a pilot study, all participants were interviewed regarding one specific child – their own child/student – via semi-structured interviews. During the interviews, the researcher used a research diary as a methodological tool and video elicitation as a facilitation tool. A cross-case analysis was conducted, and data were analysed according to the method of thematic analysis. A link has been indicated between VI and ASD, which concerns perceptions about the socially constructed manner in which an RB is perceived. ASD is perceived by the participants as a disability with challenging characteristics, such as an RB. The ASD group perceived RB as linked to ableism, social stigmatisation, and taboo, in contrast to VI, where the existence of RB seems to be a consequence of sensory loss. Bi-directionality of EST seems to have been lost completely, and the macrosystem seems to drive the interactions between the ecological systems.

Keywords: ableism, social stigma, disability, repetitive behaviour, vision impairment, autism spectrum disorder, perceptions

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Authors: Rohit Kumar Shrivastava, Amalia Thomas, Nathalie Vriend, Stefan Luding

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A mechanical wave or vibration propagating through granular media exhibits a specific signature in time. A coherent pulse or wavefront arrives first with multiply scattered waves (coda) arriving later. The coherent pulse is micro-structure independent i.e. it depends only on the bulk properties of the disordered granular sample, the sound wave velocity of the granular sample and hence bulk and shear moduli. The coherent wavefront attenuates (decreases in amplitude) and broadens with distance from its source. The pulse attenuation and broadening effects are affected by disorder (polydispersity; contrast in size of the granules) and have often been attributed to dispersion and scattering. To study the effect of disorder and initial amplitude (non-linearity) of the pulse imparted to the system on the coherent wavefront, numerical simulations have been carried out on one-dimensional sets of particles (granular chains). The interaction force between the particles is given by a Hertzian contact model. The sizes of particles have been selected randomly from a Gaussian distribution, where the standard deviation of this distribution is the relevant parameter that quantifies the effect of disorder on the coherent wavefront. Since, the coherent wavefront is system configuration independent, ensemble averaging has been used for improving the signal quality of the coherent pulse and removing the multiply scattered waves. The results concerning the width of the coherent wavefront have been formulated in terms of scaling laws. An experimental set-up of photoelastic particles constituting a granular chain is proposed to validate the numerical results.

Keywords: discrete elements, Hertzian contact, polydispersity, weakly nonlinear, wave propagation

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Authors: Smriti Gour, Neelam Pandey

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The objective of this study was to describe and analyse the mutual relationship between the coping mechanisms used by the families of a child with Autism Spectrum Disorder (ASD) and family dynamics and the effect sibling interactions have on the dynamics and coping mechanisms in an urban setup. In-depth interviews were conducted for 25 families, with 4 members each in the Delhi NCR area in India. The families who were interviewed had a younger child who had received a diagnosis of ASD between the ages of 5-12. The in-depth questionnaires contained open-ended questions and the interviews were conducted separately for the mother, father and the typically developing sibling. The key findings of the study suggested that lack of communication was a common factor in most families (n=19) leading to other difficulties like stress and relationship dysfunction. It also fostered a fallacious perception of the relationship dynamics in the family in most of the interviewed families and changed depending on the family member being interviewed. In families where the typically developing elder sibling had a good relationship with the autistic child, the family dynamics were found to be more stable, and the overall family well-being was better maintained. The coping mechanisms employed by the families were also more positive and tended to work better if the typically developing sibling maintained a positive and interactive relationship with the parents and the autistic child. The type of coping mechanisms had a major impact on the relationship between the parents and in dictating the dynamics of the family of the child with ASD. Spirituality, professional help, family support and household help emerged to be the most effective coping mechanisms for the families, with spirituality emerging to be the most positive and effective coping mechanism in the families interviewed.

Keywords: autism spectrum disorder, coping mechanism, family dynamics, parental relationships, siblings

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Authors: Etim, Victoria Enefiok, Dada, Oluseyi Akintunde, Bassey Okon

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Phonological disorder is a serious and disturbing issue to many parents and teachers. Efforts towards resolving the problem have been undermined by other specific disabilities which were hidden to many regular and special education teachers. It is against this background that this study was motivated to provide data on the prevalence of phonological disorders in children with specific language impairment (CWSLI) as the first step towards critical intervention. The study was a survey of 15 CWSLI from St. Louise Inclusive schools, Ikot Ekpene in Akwa Ibom State of Nigeria. Phonological Processes Diagnostic Scale (PPDS) with 17 short sentences, which cut across the five phonological processes that were examined, were validated by experts in test measurement, phonology and special education. The respondents were made to read the sentences with emphasis on the targeted sounds. Their utterances were recorded and analyzed in the language laboratory using Praat Software. Data were also collected through friendly interactions at different times from the clients. The theory of generative phonology was adopted for the descriptive analysis of the phonological processes. Data collected were analyzed using simple percentage and composite bar chart for better understanding of the result. The study found out that CWSLI exhibited the five phonological processes under investigation. It was revealed that 66.7%, 80%, 73.3%, 80%, and 86.7% of the respondents have severe deficit in fricative stopping, velar fronting, liquid gliding, final consonant deletion and cluster reduction, respectively. It was therefore recommended that a nationwide survey should be carried out to have national statistics of CWSLI with phonological deficits and develop intervention strategies for effective therapy to remediate the disorder.

Keywords: language disorders, phonology, phonological processes, specific language impairment

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Authors: Alvin Saputra, Felix Wijovi

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Background: Adults with Autism Spectrum Disorder (ASD) often experience emotional dysregulation and heightened suicidality. Dialectical Behavior Therapy (DBT) and Radically Open DBT (RO-DBT) have shown promise in addressing these challenges, though research on their effectiveness in ASD populations remains limited. This systematic review aims to evaluate the impact of DBT and RO-DBT on emotional regulation, depression, and suicidality in adults with ASD. Methods: A systematic review was conducted by searching databases such as PubMed, PsycINFO, and Scopus for studies published on DBT and RO-DBT interventions in adults with Autism Spectrum Disorder (ASD). Inclusion criteria were peer-reviewed studies that reported on emotional regulation, suicidality, or depression outcomes. Data extraction focused on sample characteristics, intervention details, and outcome measures. Quality assessment was performed using standard systematic review criteria to ensure reliability and relevance of findings. Results: 4 studies comprising a total of 343 participants were included in this study. DBT and RO-DBT interventions demonstrated a medium effect size (Cohen's d = 0.53) in improving emotional regulation for adults with ASD, with ASD participants achieving significantly better outcomes than non-ASD individuals. RO-DBT was particularly effective in reducing maladaptive overcontrol, though high attrition and a predominantly White British sample limited generalizability. At end-of-treatment, DBT significantly reduced suicidal ideation (z = −2.24; p = 0.025) and suicide attempts (z = −3.15; p = 0.002) compared to treatment as usual (TAU), although this effect did not sustain at 12 months. Depression severity decreased with DBT (z = −1.99; p = 0.046), maintaining significance at follow-up (z = −2.46; p = 0.014). No significant effects were observed for social anxiety, and two suicides occurred in the TAU group. Conclusions: DBT and RO-DBT show potential efficacy in reducing emotional dysregulation, suicidality, and depression in adults with ASD, though the effects on suicidality may diminish over time. High dropout rates and limited sample diversity suggest further research is needed to confirm long-term benefits and improve applicability across broader populations.

Keywords: dialectical behaviour therapy, emotional dysregulation, autism spectrum disorder, suicidality

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Authors: Siddiq Ahmed

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The current study aimed to investigate the effectiveness of a Peer-Mediated Intervention (PMI) on writing skills for a student with autism spectrum disorders in inclusive classrooms. The participants in this study were two students, one as a tutor and another as a tutee who was diagnosed with autism spectrum disorder (ASD). The target participant struggled with writing skills and was paired with a student with high academic outcomes. The Tutor had a readiness to act as a tutor for his peer and was trained on how to assist his peer and how to identify and guide his peer’s writing mistakes. Multiple baseline design across behaviors was implemented to monitor the student’s progress in writing skills. The results of the present study showed that PMI yielded significant improvements in academic achievements for the target student. This study suggests that further studies should replicate the current study with an intensive focus on other academic skills such as reading comprehension, writing social stories, and math.

Keywords: peer tutoring, writing skills, autism, inclusion

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Authors: Yuhao Jin, Zhou Zhou, Katsumi Yoshida, Zhengcao Li, Tadashi Maruyama, Toyohiko Yano

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Four kinds of nuclear graphite, IG-110U, ETP-10, CX-2002U and IG-430U were neutron-irradiated at different fluences and temperatures, ranged from 1.38 x 1024 to 7.4 x 1025 n/m2 (E > 1.0 MeV) at 473K, 573K and 673K. To take into account the disorder in the microstructure, such as stacking faults and anisotropic coherent lengths, the X-ray diffraction patterns were interpreted using a comprehensive structural model and a refinement program CARBONXS. The deduced structural parameters show the changes of lattice parameters, coherent lengths along the c-axis and the basal plane, and the degree of turbostratic disorder as a function of the irradiation dose. Our results reveal neutron irradiation effects on the microstructure and macroscopic dimension, which are consistent with previous work. The methodology used in this work enables the quantification of the damage on the microstructure of nuclear graphite induced by neutron irradiation.

Keywords: nuclear graphite, neutron irradiation, thermal annealing, recovery behavior, dimensional change, CARBONX, XRD analysis

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Authors: Koteswara Rao Pagolu, Raghava Rao Tamanam

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In India, genetic disease is a disregarded service element in the community health- protection system. This study aims to gauge the accessibility of services for treating genetic disorders and also to evaluate the practices on deterrence and management services in the district health system. A cross-sectional survey of selected health amenities in the government health sector was conducted from 15 primary health centers (PHC’s), 4 community health centers (CHC’s), 1 district government hospital (DGH) and 3 referral hospitals (RH’s). From these, the existing manpower like 130 medical officers (MO’s), 254 supporting staff, 409 nursing staff (NS) and 45 lab technicians (LT’s) was examined. From the side of private health institutions, 25 corporate hospitals (CH’s), 3 medical colleges (MC’s) and 25 diagnostic laboratories (DL’s) were selected for the survey and from these, 316 MO’s, 995 NS and 254 LT’s were also reviewed. The findings show that adequate staff was in place at more than 70% of health centers, but none of the staff have obtained any operative training on genetic disease management. The largest part of the DH’s had rudimentary infrastructural and diagnostic facilities. However, the greater part of the CHC’s and PHC’s had inadequate diagnostic facilities related to genetic disease management. Biochemical, molecular, and cytogenetic services were not available at PHC’s and CHC’s. DH’s, RH’s, and all selected medical colleges were found to have offered the basic Biochemical genetics units during the survey. The district health care infrastructure in India has a shortage of basic services to be provided for the genetic disorder. With some policy resolutions and facility strengthening, it is possible to provide advanced services for a genetic disorder in the district health system.

Keywords: district health system, genetic disorder, infrastructural amenities, management practices

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Authors: Elaheh Hosseini, Otmar Bock, Monika Thomas

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The purpose of the present study was to determine the effect of climbing therapy on the components of attention of children with attention-deficit hyperactivity disorder (ADHD). Forty children with ADHD were assigned to either an intervention group or a control group. The exercise group participated in a climbing therapy program for ten weeks, whereas no intervention was administered to the control group. All two groups were then assessed with the same battery of attention tests used in our earlier study. We found that compared to the ‘intervention’ group, performance was higher in the ‘control’ group on tests of sustained, divided and distributed attention, on all four tests. The intervention group showed a significant improvement in components of attention after ten weeks. From this we conclude that climbing therapy can improve the attention of children with ADHD and can be considered as a promising intervention and a standalone treatment for children with ADHD.

Keywords: ADHD, climbing therapy, distributed attention, divided attention, selective attention, sustained attention

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Authors: Ronit Chakraborty, Sugata Banerji

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There has been a marked increase in the reported prevalence of Autism Spectrum Disorder (ASD) among children in the US over the past two decades. This research has analyzed the growth in state-level ASD prevalence against 45 different potentially explanatory factors, including socio-economic, demographic, healthcare, public policy, and political factors. The goal was to understand if these factors have adequate predictive power in modeling the differential growth in ASD prevalence across various states and if they do, which factors are the most influential. The key findings of this study include (1) the confirmation that the chosen feature set has considerable power in predicting the growth in ASD prevalence, (2) the identification of the most influential predictive factors, (3) given the nature of the most influential predictive variables, an indication that a considerable portion of the reported ASD prevalence differentials across states could be attributable to over and under diagnosis, and (4) identification of Florida as a key outlier state pointing to a potential under-diagnosis of ASD there.

Keywords: autism spectrum disorder, clustering, machine learning, predictive modeling

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Authors: Jamie E. Banker

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For many families, pregnancy and the postpartum time are filled with both anticipation and change. For some pregnant or postpartum women, this time is marked by the onset of a mood or anxiety disorder. Experiencing a mood or anxiety disorders during this time of life differs from depression or anxiety at other times of life. Not only because of the physical changes occurring in the mother’s body but also the mental and physical preparation necessary to redefine family roles, responsibilities, and develop new identities in the life transition. The presence of a mood or anxiety disorder can influence the way in which a mother defines herself and can complicate her understanding of her abilities and competencies as a mother. The complexity of experiencing a mood or anxiety disorder in the midst of these changes necessitates specific treatment interventions to match both the symptomatology and psychological adjustments. This study explores the use of narrative family therapy techniques when treating a mother who is experiencing postpartum depression. Externalization is a common technique used in narrative family therapy and can help client’s separate their identity from the problems they are experiencing. This is crucial to a new mom who is in the middle of defining her identity during her transition to parenthood. The goal of this study is to examine how the use of externalization techniques help postpartum women separate their mood and anxiety symptoms from their identity as a mother. An exploratory case study design was conducted in a single setting, private practice therapy office, and explored how a narrative family therapy approach can be used to treat perinatal mood and anxiety disorders. The therapy sessions were audio recorded and transcribed. Constructivism and narrative theory are used as theoretical frameworks and data from the therapy sessions, and a follow-up survey was triangulated and analyzed. During the course of the treatment, the participant reports using the new externalizing labels for her symptoms. Within one month of treatment, the participant reports that she could stop herself from thinking the harmful thoughts faster, and within three months, the harmful thoughts went away. The main themes in this study were building courage and less self-blame. This case highlights the role narrative family therapy can play in the treatment of perinatal mood and anxiety disorders and the importance of separating a women’s mood from her identity as a mother. This conceptual framework was beneficial to the postpartum mother when treating perinatal mood and anxiety disorder symptoms.

Keywords: externalizing techniques, narrative family therapy, perinatal mood and anxiety disorders, postpartum depression

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Authors: Memnun Seven, Aygül Akyüz

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Having a baby, giving birth and being a mother are generally considered happy events, especially for women who have had a history of infertility and may have suffered emotionally, physically and financially. Although the transition from the prenatal period to the postnatal period is usually desired and planned, it is a developmental and cognitive transition period full of complex emotional reactions. During this period, common mood disorders for women include maternity blues, postpartum depression and postpartum psychosis. Postpartum depression is a common and serious mood disorder which can jeopardize the health of the mother, baby and family within the first year of delivery. Knowing the risks factors is an important issue for the early detection and early intervention of postpartum depression. However, knowing that a history of infertility may contribute to the development of postpartum depression, there are few studies assessing the effects of infertility during the diagnosis and treatment of depression. In this review, the effects of infertility on the development of postpartum depression and nurse/midwives’ roles in this issue are discussed in light with the literature.

Keywords: infertility, postpartum depression, risk factors, mood disorder

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Authors: Krishna Prasad Maity, Narendra Tanty, Ananya Patra, V. Prasad

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Carbon nanotube (CNT) is a well-known material for very good electrical, thermal conductivity and high tensile strength. Because of that, it’s widely used in many fields like nanotechnology, electronics, optics, etc. In last two decades, polyaniline (PANI) with CNT and functionalized CNT (fCNT) have been promising materials in application of gas sensing, electromagnetic shielding, electrode of capacitor etc. So, the study of electrical conductivity of PANI/CNT and PANI/fCNT is important to understand the charge transport and interaction between PANI and CNT in the composite. It is observed that a transition in magnetoresistance (MR) with lowering temperature, increasing magnetic field and decreasing CNT percentage in CNT/PANI composite. Functionalization of CNT prevent the nanotube aggregation, improves interfacial interaction, dispersion and stabilized in polymer matrix. However, it shortens the length, breaks C-C sp² bonds and enhances the disorder creating defects on the side walls. We have studied electrical resistivity and MR in PANI with CNT and fCNT composites for different weight percentages down to the temperature 4.2K and up to magnetic field 5T. Resistivity increases significantly in composite at low temperature due to functionalization of CNT compared to only CNT. Interestingly a transition from negative to positive magnetoresistance has been observed when the filler is changed from pure CNT to functionalized CNT after a certain percentage (10wt%) as the effect of more disorder in fCNT/PANI composite. The transition of MR has been explained on the basis of polaron-bipolaron model. The long-range Coulomb interaction between two polarons screened by disorder in the composite of fCNT/PANI, increases the effective on-site Coulomb repulsion energy to form bipolaron which leads to change the sign of MR from negative to positive.

Keywords: coulomb interaction, magnetoresistance transition, polyaniline composite, polaron-bipolaron

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Authors: Daniella Hirwa

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Attention Deficit Hyperactivity Disorder (ADHD) is associated with several risk-taking behaviors, including drug use and smoking. Such risk-taking behaviors are often a result of an attempt to self-manage symptoms associated with ADHD. The present review investigates the effects of nicotine on symptoms associated with ADHD. This systematic literature review was conducted for 2017-2024 using keywords associated with ADHD, smoking, and nicotine. The results indicate that individuals with ADHD start smoking earlier than those without ADHD, and it is believed that this prevalence and the higher rates of smoking are due to improvements in cognitive and executive function, attention, and impulsivity due to the effect that nicotine has on dopamine release. Longitudinal studies with larger sample sizes and comprehensive health history and cognitive testing are required to gain more insight into the ways that nicotine affects ADHD symptoms and the context by which smoking is used as a method of self-treatment to help aid the development of nicotine-based treatment options that do not pose the same health risks as smoking.

Keywords: ADHD, nicotine, risk-taking behaviors, smoking

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Authors: Jarek Krajewski, Andre Wittenborn, Martin Sauerland

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This abstract describes a promising approach for estimating post-traumatic stress disorder (PTSD) based on prosodic speech characteristics. It illustrates the validity of this method by briefly discussing results from an Arabic refugee sample (N= 47, 32 m, 15 f). A well-established standardized self-report scale “Reaction of Adolescents to Traumatic Stress” (RATS) was used to determine the ground truth level of PTSD. The speech material was prompted by telling about autobiographical related sadness inducing experiences (sampling rate 16 kHz, 8 bit resolution). In order to investigate PTSD-induced speech changes, a self-developed set of 136 prosodic speech features was extracted from the .wav files. This set was adapted to capture traumatization related speech phenomena. An artificial neural network (ANN) machine learning model was applied to determine the PTSD level and reached a correlation of r = .37. These results indicate that our classifiers can achieve similar results to those seen in speech-based stress research.

Keywords: speech prosody, PTSD, machine learning, feature extraction

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Authors: D. Furuya, H. Ryujin, S. Takahira, Y. Sekine, Y. Oya, K. Sonoda, H. Ogawa, Y. Nomura, R. Maruyama, H. Kim, T. Kudo, A. Nakano, T. Saruta, S. Sugita, M. Nemoto, N. Tanahashi

Abstract:

Purpose: To study the clinical characteristics of hypoglycemic coma in adult patients with type 1 or type 2 diabetes mellitus (DM). Methods: Participants in this retrospective study comprised 91 patients (54 men, 37 women; mean age ± standard deviation, 71.5 ± 12.6 years; range, 42-97 years) brought to our emergency department by ambulance with disturbance of consciousness in the 7 years from April 2007 to March 2014. Patients with hypoglycemia caused by alcoholic ketoacidosis, nutrition disorder, malignancies and psychological disorder were excluded. Results: Patients with type 1 (8 of 91) or type 2 DM (83 of 91) were analyzed. Mean blood sugar level was 31.6 ± 10.4 in all patients. A sulfonylurea (SU) was more commonly used in elderly (>75 years old; n=44)(70.5%) than in younger patients (36.2%, p < 0.05). Cases showing prolonged unconsciousness (range, 1 hour to 21 days; n=30) included many (p < 0.05) patients with dementia (13.3%; 0.5% without dementia) and fewer (p < 0.05) patients with type 1 DM (0%; 13.1% in type 2 DM). Specialists for DM (n=33) used SU less often (24.2%) than general physicians (69.0%, p < 0.05). Conclusion: In cases of hypoglycemic coma, SU was frequently used in elderly patients with DM.

Keywords: hypoglycemic coma, Diabetes mellitus, unconsciousness, elderly patients

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Authors: Rahele Mesbah, Nic Van Der Wee, Manja Koenders, Erik Giltay, Albert Van Hemert, Max De Leeuw

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Introduction: Patients with bipolar disorder (BD), characterized by depressive and manic episodes, often suffer from cognitive dysfunction. An up-to-date meta-analysis of functional Magnetic Resonance Imaging (fMRI) studies examining cognitive function in BD is lacking. Objective: The aim of the current fMRI meta-analysis is to investigate brain functioning of bipolar patients compared with healthy subjects within three domains of emotion processing, reward processing, and working memory. Method: Differences in brain regions activation were tested within whole-brain analysis using the activation likelihood estimation (ALE) method. Separate analyses were performed for each cognitive domain. Results: A total of 50 fMRI studies were included: 20 studies used an emotion processing (316 BD and 369 HC) task, 9 studies a reward processing task (215 BD and 213 HC), and 21 studies used a working memory task (503 BD and 445 HC). During emotion processing, BD patients hyperactivated parts of the left amygdala and hippocampus as compared to HC’s, but showed hypoactivation in the inferior frontal gyrus (IFG). Regarding reward processing, BD patients showed hyperactivation in part of the orbitofrontal cortex (OFC). During working memory, BD patients showed increased activity in the prefrontal cortex (PFC) and anterior cingulate cortex (ACC). Conclusions: This meta-analysis revealed evidence for activity disturbances in several brain areas involved in the cognitive functioning of BD patients. Furthermore, most of the found regions are part of the so-called fronto-limbic network which is hypothesized to be affected as a result of BD candidate genes' expression.

Keywords: cognitive functioning, fMRI analysis, bipolar disorder, fronto-limbic network

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Authors: John McDowall, Lucy Lightfoot

Abstract:

Stigma constitutes a significant barrier to the recovery and social integration of individuals affected by mental illness. Although there is some debate in the literature regarding the definition and utility of stigma as a concept, it is widely accepted that it comprises three components: stereotypical beliefs, prejudicial reactions, and discrimination. Stereotypical beliefs describe the cognitive knowledge-based component of stigma, referring to beliefs (often negative) about members of a group that is based on cultural and societal norms (e.g. ‘People with anxiety are just weak’). Prejudice refers to the affective/evaluative component of stigma and describes the endorsement of negative stereotypes and the resulting negative emotional reactions (e.g. ‘People with anxiety are just weak, and they frustrate me’). Discrimination refers to the behavioural component of stigma, which is arguably the most problematic, as it exerts a direct effect on the stigmatized person and may lead people to behave in a hostile or avoidant way towards them (i.e. refusal to hire them). Research exploring anti-stigma initiatives focus primarily on an educational approach, with the view that accurate information will replace misconceptions and decrease stigma. Many approaches take a biogenetic stance, emphasising brain and biochemical deficits - the idea being that ‘mental illness is an illness like any other.' While this approach tends to effectively reduce blame, it has also demonstrated negative effects such as increasing prognostic pessimism, the desire for social distance and perceptions of stereotypes. In the present study 144 participants were split into three groups and read one of three vignettes presenting causal explanations for Generalised Anxiety Disorder (GAD): One explanation emphasized biogenetic factors as being important in the etiology of GAD, another emphasised psychosocial factors (e.g. aversive life events, poverty, etc.), and a third stressed the adaptive features of the disorder from an evolutionary viewpoint. A variety of measures tapping the various components of stigma were administered following the vignettes. No difference in stigma measures as a function of causal explanation was found. People who had contact with mental illness in the past were significantly less stigmatising across a wide range of measures, but this did not interact with the type of causal explanation.

Keywords: generalised anxiety disorder, discrimination, prejudice, stigma

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Authors: Mohammed Asiri, Saleh Alsuwayt, Mohammed Bin Mugren, Abdulmalik Almufarrih, Tariq Alotaibi, Saad Almodameg

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Background: End-stage renal disease is a major public health concern with high incidence and mortality rate. Most of ESRD patients are on hemodialysis therapy which is a long-term treatment that disturbs patients’ lifestyle. As a result, he will be susceptible to develop psychiatric disorders like anxiety that may direct him to non-compliance on physician instructions and hemodialysis therapy. Although there are studies conducted on psychiatric issues in hemodialysis patients, but few studies focused on the effect of anxiety disorder and the patient’s compliance. Hence, we are interested in determining the prevalence of anxiety disorder among hemodialysis patients in Saudi Arabia, as well as in defining the correlation between anxiety disorder and compliance on physician instructions and hemodialysis therapy. We hypothesize that our study will show a higher prevalence of anxiety in hemodialysis patients than in general population. Also, we expect the anxiety to have a negative impact on their compliance. Methodology: We used a cross-sectional study design carried out at dialysis unit of four major hospitals in Riyadh, KSA. We interviewed 235 End Stage Renal Disease male and female patients who are on hemodialysis. We divided the patients into two categories according to their compliance. we used modified general questionnaire to get their demographic data, then we used a psychometric response scale called visual analog scale (VAS) to assess patient’s compliance to hemodialysis and physician’s instructions. Also, we used the Arabic validated version of the hospital anxiety and depression scale (HAD scale) used mainly for anxiety assessment. Results: The overall response rate was 54%. Respondents included 147 (62.6%) males and 88 (37.4%) females. The prevalence of anxiety among hemodialysis patients is 13.3%. According to visual analog scale, we found that 189 compliant patients and 45 non-compliant patients. For HAD scale, the mean ± standard deviation of the total score for females was (4.44 ± 4.7) and it’s higher than males which was 2.65 ± 3.08 (P-value= 0.002). The mean ± standard deviation of HAD score in the non-compliant group was (5.88  4.88) and it was higher than the compliant group (2.7  3.32) (P-value= 0.004). Among non-complaint group, 33.3% of anxious patients were males and 66.6% were females. There was a negative correlation between HAD score of anxiety and visual analog scale (R= - 0.285). Conclusion: We conclude that there is a high prevalence of anxiety among patients with End Stage Renal Disease that was higher in females with association of non-compliance to physician’s instructions and hemodialysis therapy.

Keywords: anxiety, end-stage renal disease, renal failure, anxiety disorder

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Authors: Wing Chi Wong

Abstract:

Globally, studying parents caring for children with attention deficit/ hyperactivity disorder (ADHD) is valuable in order to design measures in supporting those parents by health care providers and government. Such parents in Hong Kong seem to encounter detrimental stress and enormous difficulties which are exacerbated by the traditional Chinese culture, exclusion from social members and fiercely competitive educational system. However, seldom studies scrutinize this issue in Hong Kong. This article aims to review the literature regarding parents caring offsprings with ADHD in Hong Kong. Criteria were set for searching among published studies listed in various databases, including MEDLINE, CINCAHL, PsycINFO, ProQuest, Embase, Cochrane Library and Springer Link. Articles with words 'Attention Deficit Hyperactivity Disorder', 'parenting', 'parent', 'family', 'father', 'mother', 'care' in titles and abstracts were identified. Articles with all types of research designs and methods, regardless in English or Chinese, were included. They were limited to years between January 2008 and September 2018. Four relevant studies have resulted. Of them, two were exploratory studies, one was a qualitative study, and one was a survey. Samples were recruited from child psychiatric clinic, Child and Adolescent Mental Health Unit, or multiple family group therapy centres. Authors proclaimed that quality of life of those parents was usually low; particularly mothers perceived a higher stress than fathers; parenting barriers existed; conflicts were commonly raised in parent-child relationship resulting in probable maltreatment to children. Previous studies generally suggested the potential negative outcomes of parents caring children with ADHD. The types and effectiveness of interventions to those parents on relieving their tortures under Hong Kong context had not been explored and systematically evaluated. The scanty studies and existing understanding could not give a promising conclusion pertaining to the appropriate family intervention to parents living with children with ADHD. A stringent research design is necessary to establish evidence on the effectiveness of interventions for those families.

Keywords: attention deficit/ hyperactivity disorder, Hong Kong, parents, interventions

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