Intellectual Deficits Research Articles

Appreciating dyslexic thinking in qualitative research: reflections and recommendations for culturally competent, neuro-inclusive academia

AbstractDyslexia and its associated learning challenges are often misconstrued as intellectual deficits, leading to erroneous assumptions that individuals with dyslexia cannot thrive or contribute meaningfully to academic institutions. However, this article contends that the unique thinking patterns associated with dyslexia are complementary to and can substantially enrich the professional practice of qualitative research. The social model of disability emphasises how Higher Education Institutions, rooted in ableist and neurotypical norms, often marginalise and fail to accommodate dyslexic cognitive profiles. Conversely, cultural competency, as an actionable conceptual framework, calls for transformative changes that promote understanding, build meaningful relationships, and ensure effective communication with neurodivergent individuals. Drawing on my experience as a dyslexic academic, I examine critical discussions on disability, neurodiversity, higher education, and qualitative research. Adopting an autoethnographic methodological approach, I highlight my professional strengths within this context, and propose an adaptable cultural competency framework aimed at cultivating neuro-inclusive—and specifically dyslexic-friendly practices, at the individual and organisational levels within academia.

12345 Staying Ahead of Cowden’s Syndrome in Differentiated Thyroid Cancer

Abstract Disclosure: M.S. Gordon: None. M.B. Gordon: None. Cowden’s syndrome or multiple hamartoma syndrome, is an uncommon autosomal dominant genodermatosis and is a member of the spectrum of disorders involving mutations in the phosphatase and tensin homolog gene (PTEN). It is associated with differentiated thyroid cancer (DTC), ¾ papillary, including follicular variant (FVPTC), 1/4 follicular (FTC), and other malignancies, including breast (most common), colorectal, renal cell, endometrial and skin cancers. We report a case of Cowden’s syndrome in which the patient presented with FVPTC but had no other apparent indication of a genetic abnormality until she was found to have a melanoma and was noted to have macrocephaly. The patient presented at age 26 with a thyroid nodule of 2.7 cm in maximal dimension. FNA was benign. By age 31 the lesion had grown to 3.3 cm and a repeat FNA showed a follicular neoplasm. She underwent left lobectomy and isthmusectomy revealing a 3.0 cm FVPTC with focal Hurthle cell features. There was capsular irregularity, and subsequently she underwent completion thyroidectomy showing a right sided 8mm FVPTC. She then received 30 mCi I 131. There were no apparent pathologic mucocutaneous lesions, intellectual deficits, and no family history of Cowden’s syndrome. At age 39 she was found to have a Stage IA malignant melanoma of the periumbilical skin which was resected. With two malignancies diagnosed at a relatively young age, she was evaluated for genetic syndromes and it was simultaneously noted that she had macrocephaly with head circumference of 66 cm. (>99 percentile). An analysis of 69 genes by Ambry genetics revealed a pathogenic variant in the PTEN gene (c.388 C>T (p.R130*). PTEN R130* results in a premature truncation of the PTEN protein at amino acid 130 of 403 within the phosphatase tensin-type domain resulting in loss of function. Macrocephaly (2% population frequency) is seen in 80% of patients with PTEN mutations. Twenty percent of patients with thyroid carcinoma and macrocephaly have a PTEN mutation and lifetime risk of melanoma in DTC is 25%. BRAF and RAS mutations may cooperate with PTEN loss and explain the increased co-occurrence of malignancies with BRAF and RAS mutations such as melanoma, FTC, and PTC in Cowden’s syndrome. In conclusion, we suggest that head circumference should be measured in all patients with DTC to screen for PTEN abnormalities. Patients with DTC also should have a thorough skin examination. Presentation: 6/2/2024

Clinical phenotype and genetic analysis of a rare case with 6p duplication and terminal deletion syndrome

To explore the genetic basis for a child with developmental delay and intellectual deficit (DD/ID). A child who was admitted to the Maternal and Child Health Care Hospital of Longhua District of Shenzhen City on June 3, 2023 due to DD/ID, craniofacial malformations, and recurrent infections of upper respiratory tract was selected as the study subject. G-banded chromosomal karyotyping was carried out for the child and her parents. Low-depth genome-wide copy number variation sequencing (CNV-seq) and chromosomal microarray analysis (CMA) were used to screen for genome-wide copy number variations (CNV), and fluorescence in situ hybridization (FISH) was used to verify the origin of candidate CNV. The child, an 8-year-old girl, had featured unexplained growth and intellectual development delay, multiple craniofacial malformations, and recurrent infections of the upper respiratory tract. She was found to have a karyotype of 46,XX,der(6)add(6)(q23), while both of her parents were normal. Both CNV-seq and CMA showed that the child has harbored a 21.38 Mb interstitial duplication at 6p25.3p22.3 and a 0.78 Mb terminal deletion at 6p25. FISH verified that both the duplication and deletion had occurred de novo. The abnormal phenotype of the child may be attributed to the 6p duplication and terminal deletion.

Defecto del tubo neural: encefalocele occipital. Reporte de caso

Encephalocele is a rare congenital malformation of the central nervous system. The prevalence is estimated to be about 1 in 5,000-40,000 live births. It can involve different anatomical sites such as the occipital, frontal, temporal, and parietal regions. The fourth and fifth weeks of embryological development are essential for the development of the head and neck. When there is a failure in the separation of the superficial ectoderm from the neuroectoderm, neural tube defects appear, where encephaloceles can originate. Genetically it can be explained by the dysembryological theory, which involves certain mutated genes that interfere with important celular mechanisms in early neuronal development. Currently, thanks to prenatal screening tools such as ultrasound, it is possible to identify them from intrauterine life. It is extremely important to make an early diagnosis to establish protocols and provide individualized treatment, where a multidisciplinary team will be involved. Even though some cases are usually compatible with life, the expected prognosis of the anatomical site involved, as well as timely surgical management. Among the most important sequelae is the intellectual deficit. Keywords: Encephalocele; prenatal diagnosis; congenital malformations; neural tube; prognosis

Electroclinical characteristics and therapies of tonic spasms

BackgroudEpileptic spasms followed by a tonic component have been frequently observed in patients with late-onset spasms (LOS). However, there is a lack of comprehensive analysis and summary of clinical data related to tonic spasms (TS), including seizures, video-electroencephalogram (V-EEG), synchronous electromyography (EMG) and follow-up data.MethodsTo investigate the characteristics of TS, we prospectively collected the clinical data, including 24-h V-EEG and synchronous EMG data of 32 enrolled patients who suffered from epileptic spasms followed by a TS onset at least once during the 24-h V-EEG in the epilepsy center of Xijing Hospital between June 2015 and July 2020. The patients were prescribed anti-seizure medications (ASMs) and followed up for 2–7 years.ResultsThe average age of epilepsy onset was 48.06 ± 16.07 months (range: 25 to 88 months). Among the enrolled patients, 22 patients presented with mild intellectual deficits. During the 24-h video-EEG monitoring, an average of 6.94 TS events (range: 3 to 21) were recorded, and these TS seizures often occurred in clusters. In addition to TS, 26 patients experienced generalized tonic-clonic seizures (GTCS), atypical absence seizures, myoclonic seizure, and epileptic spasms. None of the 32 patients with TS displayed hypsarrhythmia during the 24-h video-EEG recording. A total of 28 patients showed normal EEG backgrounds. Interictal epileptic discharges, including slow waves (SW), spike/sharp slow waves (SSW), and spikes, often displayed multifocally. Notably, two patients achieved seizure freedom for more than 2 years through monotherapy with oxcarbazepine (OXC), which was associated with normalization of the EEG.ConclusionsIt is difficult to classify the patients with TS as any existing epileptic syndromes, which were distinct from West syndrome or Lennox-Gastaut syndrome. TS might be an underreported seizure type and further studies are needed to gain a more comprehensive understanding of the electro-clinical features and appropriate choice of ASMs for treating tonic spasms.

Synbiotic therapy with Clostridium sporogenes and xylan promotes gut-derived indole-3-propionic acid and improves cognitive impairments in an Alzheimer's disease mouse model.

Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized primarily by cognitive impairment. Recent investigations have highlighted the potential of nutritional interventions that target the gut-brain axis, such as probiotics and prebiotics, in forestalling the onset of AD. In this study, whole-genome sequencing was employed to identify xylan as the optimal carbon source for the tryptophan metabolism regulating probiotic Clostridium sporogenes (C. sporogenes). Subsequent in vivo studies demonstrated that administration of a synbiotic formulation comprising C. sporogenes (1 × 1010 CFU per day) and xylan (1%, w/w) over a duration of 30 days markedly enhanced cognitive performance and spatial memory faculties in the 5xFAD transgenic AD mouse model. The synbiotic treatment significantly reduced amyloid-β (Aβ) accumulation in the cortex and hippocampus of the brain. Importantly, synbiotic therapy substantially restored the synaptic ultrastructure in AD mice and suppressed neuroinflammatory responses. Moreover, the intervention escalated levels of the microbial metabolite indole-3-propionic acid (IPA) and augmented the relative prevalence of IPA-synthesizing bacteria, Lachnospira and Clostridium, while reducing the dominant bacteria in AD, such as Aquabacterium, Corynebacterium, and Romboutsia. Notably, synbiotic treatment also prevented the disruption of gut barrier integrity. Correlation analysis indicated a strong positive association between gut microbiota-generated IPA levels and behavioral changes. In conclusion, this study demonstrates that synbiotic supplementation significantly improves cognitive and intellectual deficits in 5xFAD mice, which could be partly attributed to enhanced IPA production by gut microbiota. These findings provide a theoretical basis for considering synbiotic therapy as a novel microbiota-targeted approach for the treatment of metabolic and neurodegenerative diseases.

MDB-37. RAC1 INHIBITION FOR THE TREATMENT OF MEDULLOBLASTOMA

Abstract Despite considerable advances in identifying genetic and epigenetic abnormalities in medulloblastoma, many patients succumb to the disease. In addition, patients who respond to traditional therapy suffer from cognitive and intellectual deficits. Therefore, there is a dire need to identify novel therapies for treating medulloblastoma. Rho family GTPases are targets in multiple cancers including medulloblastoma. Rho, Rac1 and Cdc42 are essential mediators of cell-cell adhesion and cellular motility signaling, which are dysregulated in medulloblastoma. These GTPases are involved in the regulation of the cytoskeleton, cell migration, cellular proliferation, and developmental signaling. The small GTPase Rac1 has recently been reported as a possible therapeutic target in SHH-medulloblastoma due to its regulation of Hedgehog signaling via the GLI1 and GLI2 transcription factors. We have recently reported that GLI1/GLI2 are in a novel complex that contains the epigenetic regulators UHRF1 and DNMT1. Therefore, Rac1 may play a previously unappreciated role in epigenetic regulation of medulloblastoma by controlling the GLI1/GLI2/UHRF1/DNMT1 complex. To test this, we have utilized a novel brain penetrant Rac1 inhibitor termed GYS32661. GYS32661 treatment of medulloblastoma cells inhibits the GLI1-UHRF1 interaction. Importantly this inhibition of the interaction occurs rapidly suggesting that it is disrupting an early event in SHH signaling. GYS32661 also inhibits actin polymerization suggesting that utilizing this compound may provide a dual mechanism of inhibiting Shh signaling and cellular migration concurrently. GYS32661 is not toxic in animal models and is approximately 50% brain penetrant and therefore is an important clinical candidate for the treatment of medulloblastoma. Our studies identify an essential link between Rac1, Shh signaling, epigenetics, and cellular migration in medulloblastoma.

Deafness causing neuroplastin missense variants fail to promote plasma membrane Ca2+-ATPase levels and Ca2+ transient regulation in brain neurons

Hearing, the ability to sense sounds, and the processing of auditory information are important for perception of the world. Mice lacking expression of neuroplastin (Np), a type-1 transmembrane glycoprotein, display deafness, multiple cognitive deficiencies, and reduced expression of plasma membrane calcium (Ca2+) ATPases (PMCAs) in cochlear hair cells and brain neurons. In this study, we transferred the deafness causing missense mutations pitch (C315S) and audio-1 (I122N) into human Np (hNp) constructs and investigated their effects at the molecular and cellular level. Computational molecular dynamics show that loss of the disulfide bridge in hNppitch causes structural destabilization of immunoglobulin-like domain (Ig) III and that the novel asparagine in hNpaudio-1 results in steric constraints and an additional N-glycosylation site in IgII. Additional N-glycosylation of hNpaudio-1 was confirmed by PNGaseF treatment. In comparison to hNpWT, transfection of hNppitch and hNpaudio-1 into HEK293T cells resulted in normal mRNA levels but reduced the Np protein levels and their cell surface expression due to proteasomal/lysosomal degradation. Furthermore, hNppitch and hNpaudio-1 failed to promote exogenous PMCA levels in HEK293T cells. In hippocampal neurons, expression of additional hNppitch or hNpaudio-1 was less efficient than hNpWT to elevate endogenous PMCA levels and to accelerate the restoration of basal Ca2+ levels after electrically-evoked Ca2+ transients. We propose that mutations leading to pathological Np variants, as exemplified here by the deafness causing Np mutants, can affect Np-dependent Ca2+ regulatory mechanisms and may potentially cause intellectual and cognitive deficits in humans.

Intelligence quotient in children with congenital hypothyroidism on treatment: A cross-sectional study

Introduction: Congenital hypothyroidism (CH) is the most commonly identified endocrine disorder. Early intervention can prevent intellectual deficits. Objective: To determine the intelligence quotient (IQ) and aetiology in children diagnosed with CH undergoing treatment and the associations between the IQ and the age of diagnosis. Method: A cross-sectional study was conducted in a tertiary care hospital in Bangalore, which enrolled 52 children aged 6 months to 15 years diagnosed with CH. Using a pre-designed proforma, we collected demographic data and confirmed CH aetiology. For IQ assessment, children under 3 years underwent the Vineland Social Maturity Scale (VSMS) and developmental screening test (DST), while those over 3 years were evaluated with the VSMS and Binet Kamat test of intelligence (BKT). Results: Among the 52 children with CH, dyshormonogenesis was the predominant aetiology. In the under-3-year age group (n=17), all demonstrated average to above-average intelligence. Among those over 3 years (n=35), 10.9% (95% CI: 6.5% to 17.2%) exhibited low average and borderline intelligence with the VSMS, and 5.7% (95% CI: 2.3% to 12.5%) had extremely low IQ (IQ <70). The BKT scale showed 20% (95% CI: 12.8% to 29.7%) with low average and borderline intelligence, and 2.9% (95% CI: 0.7% to 8.3%) with extremely low IQ (IQ <70). Children diagnosed at a mean age of 4.2 and 4.4 years exhibited intellectual disability on the VSMS and BKT scales, respectively. Conversely, those diagnosed at a mean age of 1.2 and 1.8 years showed average and above-average intelligence on the VSMS (p-value 0.02) and BKT scale (p-value 0.001), respectively. Conclusions: Children diagnosed with CH at mean ages of 4.2 and 4.4 years exhibited intellectual disability on the VSMS and BKT scales, respectively. Conversely, those diagnosed with CH at mean ages of 1.2 and 1.8 years showed average and above-average intelligence on the VSMS (p = 0.02) and BKT scale (p = 0.001), respectively.

Clinical phenotypes of adults with monogenic and syndromic genetic obesity.

Considering limited evidence on diagnostics of genetic obesity in adults, we evaluated phenotypes of adults with genetic obesity. Additionally, we assessed the applicability of Endocrine Society (ES) recommendations for genetic testing in pediatric obesity. We compared clinical features, including age of onset of obesity and appetite, between adults with non-syndromic monogenic obesity (MO), adults with syndromic obesity (SO), and adults with common obesity (CO) as control patients. A total of 79 adults with genetic obesity (32 with MO, 47 with SO) were compared with 186 control patientswith CO. Median BMI was similar among the groups: 41.2, 39.5, and 38.7 kg/m2 for patients with MO, SO, and CO, respectively. Median age of onset of obesity was 3 (IQR: 1-6) years in patients with MO, 9 (IQR: 4-13) years in patients with SO, and 21 (IQR: 13-33) years in patients with CO (p < 0.001). Patients with genetic obesity more often reported increased appetite: 65.6%, 68.1%, and 33.9% in patients with MO, SO, and CO, respectively (p < 0.001). Intellectual deficit and autism spectrum disorder were more prevalent in patients with SO (53.2% and 21.3%) compared with those with MO (3.1% and 6.3%) and CO (both 0.0%). The ES recommendations were fulfilled in 56.3%, 29.8%, and 2.7% of patients with MO, SO, and CO, respectively (p < 0.001). We found distinct phenotypes in adult genetic obesity. Additionally, we demonstrated low sensitivity for detecting genetic obesity in adults using pediatric ES recommendations, necessitating specific genetic testing recommendations in adult obesity care.

Pelizaeus disease Merzbacher like: About an observation

Pelizaeus-Merzbacher disease (PM) is an X-linked leukodystrophy causing developmental delay, nystagmus, hypotonia, spasticity and variable intellectual deficit. Three forms are described according to age of onset and severity: neonatal forms (+ severe), classical form (moderate, first 2 months of life) and transient form (the least serious 2-3 years). Prevalence is estimated at 1/400,000. We report the sighting of a 12-year-old and 8-month-old girl, with no significant history, from a non-indigenous marriage. Presents since the age of 5 months a bilateral horizontal nystagmus, myoclonia and a psychomotor retardation and whose examination revealed a pyramidal syndrome and a discreet hepatomegaly. The biological balance objectivéhyperlactatemie, hyperammoniémieet Chromatography of Amino Acids in urine showed an increase in glycine, alanine and tyrosine with Amino Acid chromatography in the blood and chromatography of Organic Acids normal. MRI brain objectified a demyelinating aspect of the white substance and atrophy of the corpus callosum. PEV pathological retina-cortical conduction, PEA altered left, Muscle biopsy absence of shredded red fibers and genetic study confirms PelizaeusMerzbacher disease like.

GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.

Most patients with GNB1 encephalopathy have developmental delay and/or intellectual disability, brain anomalies and seizures. Recently, two cases with GNB1 encephalopathy caused by haploinsufficiency have been reported that also show a Prader-Willi-like phenotype of childhood hypotonia and severe obesity. Here we present three new cases from our expert centre for genetic obesity in which GNB1 truncating and splice variants, probably leading to haploinsufficiency, were identified. They all have obesity, hyperphagia and intellectual deficit. The clinical cases and their weight courses are presented, together with a review of all 68 published cases with GNB1 encephalopathy. Information on weight was not mentioned in most of these articles, so we contacted authors for additional clinical information on weight status and hyperphagia. Of the 42 patients whose weight status we could determine, obesity was present in 8 patients (19%). Obesity is significantly over-represented in the group with truncating and splicing variants. In this group, we see an obesity prevalence of 75%. Since GNB1 has been linked to several key genes in the hypothalamic leptin-melanocortin pathway, which regulates satiety and energy expenditure, our data support the potential association between GNB1 haploinsufficiency and genetic obesity. We also suggest GNB1 is a candidate gene for the known obesity phenotype of the 1p36 microdeletion syndrome given this chromosomal region includes the GNB1 gene. Knowledge of an additional obesity phenotype is important for prognosis, early interventions against obesity and awareness when prescribing weight-inducing medication.

Evaluation of Psychomotor Development in Children Treated with Therapeutic Hypothermia

Introduction. Perinatal asphyxia is a common neonatal problem. It remains a leading cause of neonatal morbidity and mortality and plays a major role in motor and intellectual developmental deficits in children. Complications of cerebral hypoxia in asphyxiated newborns can be treated with therapeutic hypothermia. The treatment involves moderate cooling of the newborn to minimize the consequences of hypoxia. Aim. To evaluate psychomotor development and detect impairments and deficits in motor functions, perception, speech, manual functions and social contacts in children treated with therapeutic hypothermia. Material and Methods. The study was carried out on a group of 27 children treated with therapeutic hypothermia. The data involved an analysis of medical records and the results of psychomotor development evaluation using the Munich Functional Development Diagnostics scale. Results. We found no significant delay in the developmental age of the children for walking. The mean developmental age for this area was 30.56 months (SD=8.42 months), for fine motor skills, speaking, independence and social skills were similar. The mean developmental age for understanding speech was 28.76 months (SD=7.92 months). The mean developmental age for cognitive skills was 27.73 months (Me=28 months). The speech development was slightly delayed for their age (x̅=3.2 months, SD=1.09 months). Conclusions. Children aged up to 1 year showed normal psychomotor development. Small deficits in cognitive processes and social skills were identified in children in the second and third years of life. The greatest developmental delays were identified in children in the fourth, fifth and sixth years of life. (JNNN 2024;13(1):9–16)

ALDH18A1‐related hereditary spastic paraplegia and developmental and epileptic encephalopathy with spike‐wave activation in sleep: Expanding the clinical phenotype

AbstractObjectiveWe present the cases of two sisters, both harboring the same ALDH18A1 gene mutations, who presented with a complex clinical phenotype characterized by spastic paraparesis with ataxia, epileptic encephalopathy, severe psychomotor deficits, and behavioral abnormalities.MethodsCase description of two sisters with ALDH18A1 gene mutations.ResultsThe older patient, a 12‐year‐old girl, exhibited spastic paraparesis with ataxia, microcephaly, facial dysmorphisms, and severe intellectual disability, with an absence of verbal language. An electroencephalogram (EEG) revealed marked spike‐and‐wave activation during sleep (SWAS), although no clinically documented seizures were observed. The younger sister, who was 9 years old, displayed a similar clinical presentation, including spastic paraparesis with ataxia, microcephaly, dysmorphisms, however, she displayed slightly more severe intellectual deficits and polymorphic seizures. EEG revealed a SWAS pattern in this case. Magnetic resonance imaging scans in both cases showed only a thin corpus callosum. Whole exome sequencing unveiled the presence of two likely pathogenic variants in compound heterozygosity within the ALDH18A1 gene. Specifically, these variants included the splice site variant c.88 + 1c.88+1G&gt;A of paternal origin and the variant c.1364c.1364T&gt;C (p.Leu455Ser) of maternal origin. Both sisters displayed normal blood levels of ammonia, ornithine, citrulline, arginine, and other amino acids.InterpretationThese findings were compatible with ALDH18A1‐related HSP complicated with a clinical and EEG pattern reminiscent of DEE‐SWAS. We present the first report of DEE‐SWAS in ALDH18A1‐related HSP, expanding the clinical manifestations of this complex neurodevelopmental condition.

Systematic Review of Diagnostic Approaches for Human Giardiasis: Unveiling Optimal Strategies.

Giardiasis, caused by the protozoan Giardia intestinalis, affects around 400 million people worldwide, emphasizing the critical need for accurate diagnosis to enhance human health, especially in children. Prolonged giardiasis in childhood can lead to intellectual deficits and other complications. A variety of diagnostic tools, including microscopic, immunological, and molecular methods, are available for detecting G. intestinalis infection. Choosing the most suitable method can be challenging due to the abundance of options. This systematic review assesses the reliability and applicability of these diagnostic modalities. Utilizing the Dimensions and Wordart platforms for data analysis, we focus on relevant literature addressing diagnostic methods for human giardiasis. Microscopic techniques, particularly Ritchie's method, emerge as the primary choice, followed by enzyme-linked immunosorbent assay (ELISA) and polymerase chain reaction (PCR). PCR's limited use is attributed to its high cost and infrastructure challenges in developing nations. In conclusion, our analysis supports microscopic methods as the gold standard for giardiasis diagnosis. However, in cases where symptoms persist despite a negative diagnosis, employing more sensitive diagnostic approaches is advisable.

Antenatal description of large 4q13.2q21.23 deletion and outcomes.

4q21 microdeletion syndrome is an emergent non-recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit, and absent or severely delayed speech. Deletions occur in clusters along 4q interstitial or terminal regions. 4q chromosomal aberrations are variable in type, size, and breakpoint. Genotype-phenotype correlation is a challenging task. The recurrent antenatal feature associated a posteriori with this syndrome is intrauterine growth retardation. There are very few precise antenatal descriptions of this syndrome. We report here the first antenatal history of one of the largest deletion of this region. Our case harbored a 16.9 Mb deletion encompassing 135 protein coding genes including 20 OMIM morbid genes involved in neurological and cognitive abilities. Those breakpoints overlap two clusters of described microdeletion syndromes of cytogenetic band 4q13 and 4q21. From the end of the second trimester, set of call signs associated with this syndrome can be completed by: excess of amniotic fluid, mild growth retardation, short long bones, bony anomalies of the extremities, and bulging cheeks. So, emphasis should be placed on the examination of the extremities, and the face during the routine targeted prenatal ultrasound.

Benefits of equine therapies on the cognitive of children with Autism Spectrum Disorder: systematic review and meta-analysis

Autistic Spectrum Disorder (ASD) is a neurodevelopmental disorder whose main characteristics are changes in cognitive areas and social deficit. The aim of this study was to describe the benefits of equine activities and therapies in the cognitive areas of children with ASD/autism. This is a systematic review with meta-analysis of scientific articles indexed in the following online databases: BVS Salud, Periódicos CAPES, PubMed, Science.Gov and SCIELO, in addition to the website of the National Association of Riding Therapy (ANDE), Brazil, and the REDALYC platform, for inclusion of additional studies. As per Preferred Reporting Items for Systematic Reviews and Meta-analysis and assessed for quality by Consolidated Standards for Reporting of Trials - CONSORT checklist. There were 29 articles eligible for analysis, totaling 591 participants. The methods used in the interventions and evaluations differed between the articles, but it was possible to identify benefits of horse-assisted activities and therapies in the cognitive areas of children with ASD and autism, especially with regard to social and emotional cognitive, as well as, in reducing irritability, hyperactivity and aggressiveness. Therefore, this systematic review confirms the benefits of horse-assisted activities and therapies in the cognitive areas of children with ASD and autism with intellectual deficit.

Tooth decay and autism spectrum disorders in children: is there a connection?

The study of caries lesions of children 7 and 12 years old with different degrees of severity of autism and concomitant intellectual disabilities, in comparison with a control group of neurotypical patients of similar age. The main study group included children with ASD ages 7 and 12 (n=214), and the comparison group included neurotypical children of the same age (n=140). To assess the incidence of dental caries, indicators of the prevalence and intensity of the process were used. The prevalence of dental caries in children with ASD is lower than in the comparison group or comparable. The average caries prevalence was found in the 7- and 12-year-old groups in children with mild autism without concomitant intellectual deficits (80.89±3.40 and 76.65±4.24, respectively). In children with severe and extremely severe autism, regardless of the presence of intellectual disability, the prevalence of dental caries was high in both age groups, which is comparable with the same indicator and age of neurotypical children. Moreover, both age groups of neurotypical children were also comparable in caries prevalence (89.67±1.65 and 90.32±1.20 respectively). Caries intensity did not seem to be related to years of autistic disorder (significantly lower in the group of 12-year-old children with ASD, compared to 7-year-olds). Caries intensity in children with ASD increased with increasing severity of autism and concomitant intellectual disability. Further comprehensive studies in terms of included variables are needed to identify contributing factors (impact of family socioeconomic opportunities, increased parental care, etc.).

Kim są osoby bezdomne i jakie maja problemy? Przegląd literatury

IntroductionThe publications about homeless persons and homelessness are very popular among scientists. Entering the keyword ‘homeless’ returns about 17 thousand hits in the PubMed search engine. What is so interesting about homelessness that so many researchers devote their time and resources to this topic?AimOur paper is an attempt to answer the question about that, and partially about the genesis of homelessness.Material and methodsThe PubMed and Scopus databases have been researched. We selected the articles related to the most common pathologies among the homeless.Results and discussionThe background of the phenomenon of homelessness is described in the context of the most commonly reported shared elements i.e. poverty, social exclusion, high mortality rates, male predominance, alcohol and drug dependence, intellectual deficits, depressive disorders and suicides. We described the differences resulting from geographical location and environmental factors. We are trying to elucidate the reasons for the discrepancies between individual investigators studying similar problems at different places and at different times.ConclusionsHomeless people are not a different species. They are a derivate of societies on the margins of which these people live. They are therefore different in the geographical sense, but in a given area they change with time similarly to the local population.

Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study

Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria, and intellectual deficits. Despite advances in therapy, the cognitive and adaptive profile remains unknown. Our study explores the adaptive profile of 37 PMM2-CDG patients, examining its association with parental stress and medical characteristics. Assessment tools included ICARS for the cerebellar syndrome and NPCRS for global disease severity. Behavioral and adaptive evaluation consisted of the Vineland Adaptive Behavior Scale and the Health of the Nation Outcome Scales. Psychopathological screening involved the Child Behavior Checklist and the Symptom Check-List-90-R. Parental stress was evaluated using Parental Stress Index. Results were correlated with clinical features. No significant age or sex differences were found. ‘Daily living skills’ were notably affected. Patients severely affected exhibited lower adaptive skill values, as did those with lipodystrophy and inverted nipples. Greater severity in motor cerebellar syndrome, behavioral disturbances and the presence of comorbidities such as hyperactivity, autistic features and moderate-to-severe intellectual disability correlated with greater parental stress. Our study found no decline in adaptive abilities. We provide tools to assess adaptive deficits in PMM2-CDG patients, emphasizing the importance of addressing communication, daily living skills, and autonomy, and their impact on parental stress in clinical monitoring and future therapies.