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BACKGROUND: Within cohorts of children with autism spectrum disorder (ASD) there is considerable variation in terms of language ability. In the past, it was believed that children with ASD either had delayed articulation and phonology skills or excelled in those areas compared to other language domains. Very little is known about speech sound ability in relation to language ability and non-verbal ability in Swedish preschool children with ASD. AIM: The current study aimed to describe language variation in a group of 4-6-year-old children with ASD, focusing on in-depth analyses of speech sound error patterns with and without non-phonological language disorder and concomitant non-verbal delays. METHOD & PROCEDURES: We examined and analysed the speech sound skills (including consonant inventory, percentage of correct consonants and speech sound error patterns) in relation to receptive language skills in a sample of preschool children who had screened positive for ASD in a population-based screening at 2.5 years of age. Seventy-three children diagnosed with ASD participated and were divided into subgroups based on their receptive language (i.e., non-phonological language) and non-verbal abilities. OUTCOMES & RESULTS: The subgroup division revealed that 29 children (40%) had language delay/disorder without concurrent non-verbal general cognitive delay (ALD), 27 children (37%) had language delay/disorder with non-verbal general cognitive delay (AGD), and 17 children (23%) had language and non-verbal abilities within the normal range (ALN). Results revealed that children with ALD and children with AGD both had atypical speech sound error patterns significantly more often than the children with ALN. CONCLUSIONS & IMPLICATIONS: This study showed that many children who had screened positive for ASD before age 3 years - with or without non-verbal general cognitive delays - had deficits in language as well as in speech sound ability. However, individual differences were considerable. Our results point to speech sound error patterns as a potential clinical marker for language problems (disorder/delay) in preschool children with ASD. WHAT THIS PAPER ADDS: What is already known on the subject Children with autism spectrum disorder (ASD) have deficits in social communication, restricted interests and repetitive behaviour. They show very considerable variation in both receptive and expressive language abilities. Previously, articulation and phonology were viewed as either delayed in children with ASD or superior compared with other (non-phonological) language domains. What this paper adds to existing knowledge Children with ASD and language disorders also have problems with speech sound error patterns. What are the potential or actual clinical implications of this work? About 75% of children with ASD experience language delays/disorders, as well as speech sound problems, related to speech sound error patterns. Understanding/acknowledging these phonological patterns and their implications can help in the diagnosis and intervention of speech sound disorders in children with ASD. Direct intervention targeting phonology might lead to language gains, but more research is needed.
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PURPOSE: Autism Spectrum Disorder (ASD) occurs in 1-1.5% of the general population and possibly in up to 20% of psychiatric outpatients. Post Traumatic Stress Disorder (PTSD) occurs at some point in life in 4% of the general population and in 14-20% of psychiatric outpatients. Knowledge about how PTSD manifests in people with ASD is important in order for it to be correctly diagnosed and intervened for. METHODS: This study investigated the relationship between PTSD and autism among adult psychiatric outpatients (N = 90) of whom 63 had ASD or subthreshold ASD based on DSM-5 criteria. The study group was subjected to in-depth psychiatric assessments using validated instruments. Diagnosis of PTSD was made based on the Mini International Neuropsychiatric Interview (MINI). RESULTS: There was a trend towards PTSD being more common among participants with ASD compared to participants without ASD, although significant differences could not be shown in this small sample. 21% of the ASD group had current PTSD, compared to 4% of the study group without ASD. There were no differences between the groups regarding exposure to trauma. There was a trend towards a relationship between number of autism symptoms and hyperarousal symptoms in PTSD. Conversely, the PTSD symptom of irritability/outbursts of anger, was significantly associated with number of autism symptoms. CONCLUSIONS: A subgroup of psychiatric outpatients with ASD also suffer from PTSD. Hyperarousal symptoms are possibly more prevalent in the presentation of PTSD in individuals/patients with ASD compared to those without ASD.
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AIM: To assess the validity of the Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations-Questionnaire (ESSENCE-Q), a simple screening tool for neurodevelopmental problems, in Japan. METHOD: Parents/caregivers completed the 11-item ESSENCE-Q for 77 612 children aged 2 years 6 months included in a national birth cohort study. Information about neurodevelopmental disorders (NDDs: autism spectrum disorder; intellectual disability and/or developmental language disorder; motor delay/motor disorder) was collected at age 3 years. Each ESSENCE-Q item was scored on a binary (0,1) scale, with a total score range of 0 to 11. Total scores and individual items were compared across children with and without NDDs. RESULTS: NDDs were recorded in 854 children (1.1%). With a total ESSENCE-Q score cut-off of ≥3, receiver operating characteristic curve analysis showed an area under the curve of 0.91, with sensitivity 84.9%, specificity 84.8%, positive predictive value 5.9%, and negative predictive value 99.8%. The proportion of parental concerns at 2 years 6 months differed significantly by NDD status for communication (89.5% vs 14.2%) and general development (80.2% vs 7.4%). ESSENCE-Q total scores were moderately negatively correlated (-0.36, p < 0.001) with Japanese Ages and Stages Questionnaire scores. INTERPRETATION: The parent/caregiver-completed ESSENCE-Q is useful as a tool for screening out children with neurotypical development at this early age. Further research into longer-term predictive validity will be possible as more NDD diagnoses are given as the children grow up.
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AIM: To study academic, social and psychiatric outcomes among adults in the general population in southwestern Sweden. Groups of individuals born in 1998 and ineligible, eligible but not completed, and eligible and completed upper secondary school were followed in 2020. METHODS: Data were retrieved from Statistics Sweden, the Swedish National Agency for Education, the Longitudinal Integrated Database for Health Insurance and Labour Market Studies, the Swedish National Crime Register and the National Patient Register. The four adverse outcomes neither engaging in post-secondary studies nor having a regular salary, needing social benefits, having any criminal conviction, and having a psychiatric disorder at age ≥16 were examined. RESULTS: Of the final sample of 2706 individuals who had attended 9th grade of compulsory school in 2014, 273 (10%) were ineligible for upper secondary school. Of eligible individuals, 82 (3%) never started, 282 (10%) did not complete and 2065 (77%) completed upper secondary school. Compared with completers, the odds ratios for adverse outcomes were markedly increased for all other groups up to 22 years old. CONCLUSION: Inability to start or complete upper secondary school strongly predicted unemployment and psychosocial and psychiatric adversities. School authorities should consider offering vocational programmes post compulsory school without grade restrictions.
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This study investigated language ability in 6-year-old mono- and multilingual children who, at age 2;6 years, had screened positive for developmental language disorder (DLD). One hundred children (32 girls, 68 boys) were assessed at an average age of 2;9 years (T1) and 85 of them (30 girls, 55 boys) were reassessed at age 6;0 years (T2) using a standardised test battery. Of these, 68 (23 girls, 45 boys) met the criteria for DLD diagnosis; 28 of them were monolingual and 40 multilingual. Language profiles at T2 were analysed, as were the associations between DLD and a mono- or multilingual background as well as other measures collected at T1, including mean length of utterance (MLU), heredity and parental education. As expected, the results showed that the total group (including both mono- and multilingual children) scored below test norms for 6-year-olds on all language tests, except for receptive vocabulary, where the monolingual children scored in line with those norms. The multilingual group performed significantly less well than the monolingual one on language comprehension, receptive vocabulary, recalling sentences, word finding and story retelling; disparities regarding MLU and language comprehension were already evident at T1. Interestingly, MLU at T1 showed a moderate association with language comprehension at T2 in the total group. The monolingual children were more likely than the multilinguals to have heredity for DLD or reading and writing disorders. In conclusion, language difficulties identified through screening and assessment before age 3 years often persist at age 6 years.
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Few studies have investigated the offspring of women with anorexia nervosa (AN). The aim of this study was to examine perinatal status, mental and physical health in the offspring of mothers with a history of AN. Fifty-one individuals with adolescent-onset AN and 51 matched controls (COMP) have been followed prospectively. Presently, 30 years after AN onset, at a mean age of 44 years, female participants who had given birth (nAN = 40, nCOMP = 40) were interviewed regarding psychiatric health in their offspring using the Developmental and Well-Being Assessment and the MINI International Neuropsychiatric Interview. In addition, information on the offspring's perinatal status, psychiatric- and physical health was obtained from the Swedish Medical Birth Register and The Swedish National Patient Register. Data regarding mental and physical health were available for 83 and 86 offspring in the AN and COMP groups, respectively. At birth, all of weight, length, head circumference and ponderal index were significantly reduced in the offspring of mothers with a history of AN. In adolescence, parental interviews indicated an overrepresentation of current psychiatric diagnoses in the offspring of mothers with AN. Compared with the offspring in the COMP group, endocrinological, immune and metabolic disorders were much more common in the offspring of the AN group. In conclusion, a history of AN increases the risk of worse perinatal outcome of the offspring. Later on, in childhood and adolescence, psychiatric and physical morbidity may be overrepresented in the offspring of women with AN.
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Aim: Deviant visual processing has been observed in autism spectrum disorder (ASD), manifesting as decreased P1 and P2 components of visual event-related potentials (ERPs). Alterations have been attributed to a failure of Bayesian inference, characterized by hypo-activation of top-down predictive abilities. To test this hypothesis, we measured the visual negativity (vN) as an ERP index of visual preparation hypothesized to mirror predictive brain activity. Method: ERPs in a cued visual GO/NOGO task in 63 adolescents with ASD (IQ > 70, attention-deficit hyperactivity disorder excluded) were compared with ERPs in a sex- and age-matched group of 60 typically developing (TD) controls. Results: The behavioral variables (omissions, commissions, reaction time, and reaction time variability), as well as ERP components reflecting, among other processes, cognitive control (contingent negative variation, P3 GO, P3 NOGO, N2 NOGO) did not differ between the groups. There were group differences in visually based ERPs. Besides P1 and P2 differences, the vN component differentiated the 2 groups with the highest effect size (d = 0.74).Conclusion: This ERP study lends support to the hypothesis suggesting that a Bayesian hypo-prediction could underlie unique perceptual experiences in individuals with ASD. This could lead to a predisposition to perceive the world with reduced influence and modulation from contextual cues, prior experiences, and pre-existing expectations.
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Trastorno del Espectro Autista , Señales (Psicología) , Electroencefalografía , Potenciales Evocados , Tiempo de Reacción , Humanos , Masculino , Trastorno del Espectro Autista/fisiopatología , Femenino , Adolescente , Electroencefalografía/métodos , Tiempo de Reacción/fisiología , Potenciales Evocados/fisiología , Percepción Visual/fisiología , Niño , Potenciales Evocados Visuales/fisiología , Teorema de Bayes , Estimulación Luminosa/métodos , Encéfalo/fisiopatologíaRESUMEN
BACKGROUND: Children's health services in many countries are moving from single condition diagnostic silo assessments to considering neurodevelopment in a more holistic sense. There has been increasing recognition of the importance of clinical overlap and co-occurrence of different neurotypes when assessing neurodivergent children. Using a cross-sectional service evaluation design, we investigated the overlap of neurodivergences in a cohort of children referred for autism assessment, focusing on motor, learning, and attention/activity level domains. We aimed to determine what proportion of children in a cohort referred for an autism assessment showed traits of additional neurodivergences, and what proportion were further investigated. METHODS: We evaluated anonymised medical records of children aged between two and 17 years referred for autism assessment. We used validated questionnaires to assess for neurodivergent traits. A weighted scoring system was developed to determine traits in each neurodevelopmental domain and a score above the median was considered to indicate a neurodivergent trait. Evidence of further investigations were recorded. We then examined the relationships between autism traits and traits of additional neurodivergence. RESULTS: 114 participants were included for evaluation. 62.3% (n = 71) had completed questionnaires for analysis. Of these, 71.8% (n = 51) scored greater than the median for at least one additional neurotype, indicating the presence of other neurodivergent traits, and 88.7% (n = 64) attracted a diagnosis of autism. Only 26.3% of children with evidence of additional neurotypes were further investigated beyond their autism assessment. CONCLUSIONS: Our results demonstrate the extensive overlap between additional neurodivergent traits in a population of children referred with suspected autism and show that only a small proportion were further investigated. The use of standardised questionnaires to uncover additional neurodivergences may have utility in improving the holistic nature of neurodevelopmental assessments.
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Trastorno Autístico , Trastornos Generalizados del Desarrollo Infantil , Holometabola , Niño , Humanos , Animales , Preescolar , Adolescente , Trastorno Autístico/diagnóstico , Estudios Transversales , Salud InfantilRESUMEN
AIM: This study aimed to explore whether the supervision of community public health nurses (PHNs) and nursery school teachers (NSTs) by a specialist, familiar with Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations (ESSENCE), improved the agreement of ESSENCE-Questionnaire (ESSENCE-Q) scoring, across raters. METHODS: A PHN, two NSTs, and a speech-language pathologist (SLP), familiar with ESSENCE, independently assessed 32 children. The ESSENCE-Q results were divided into the first (child 1-18) and second groups (the 19th child and the following children). Changes in score discrepancies were analysed for ESSENCE-Q cutoff scores and total ESSENCE-Q scores across raters. The SLP scores were used as a reference to evaluate sensitivity and specificity. RESULTS: The total ESSENCE-Q scores of the PHN and NSTs showed higher concordance in the second group (p < 0.05). Comparisons of the differences between the PHN/NSTs and SLP in total ESSENCE-Q scores showed a significantly smaller difference in the NSTs' scores in the second group (p < 0.05). CONCLUSION: The findings suggest that specialist supervision may lead to a better agreement between PHN and NSTs regarding ESSENCE-Q scores.
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Enfermeras de Salud Pública , Niño , Humanos , Síndrome , Encuestas y CuestionariosRESUMEN
AIM: Assessing rates of neurodevelopmental problems (NDPs) in 11-year-old children and possible association with other health complaints and school performance. METHODS: In-school study of 11-year-old children as an add-on assessment to the 4th grade regular health check-up, comprising a structured physical neurodevelopmental examination, neuropsychological assessment, behavioural ratings, maternal interview, review of medical records and academic achievements. RESULTS: Out of 348 children recruited from eight schools, 223 (64%) participated. Any physical condition was found in 102/222 (46%), most commonly atopy (18%). One in five had a BMI z-score >2 standard deviations over the reference mean. One or more NDP was found in 86/221 (40%) children. The number of failed national tests correlated positively with NDP severity rated with the clinical global impression severity instrument (Spearman's r = 0.41, p < 0.001). The majority of participants with failed national tests, also had co-occurring health complaints (≥2 of: stomach or extremity ache, headache, difficulties sleeping, internalising symptoms or obesity) and NDPs. CONCLUSION: Health complaints, physical conditions and NDPs are very common in 11-year-old children and warrant adequately staffed, thoroughly equipped school healthcare services.
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Éxito Académico , Trastornos del Neurodesarrollo , Niño , Humanos , Estado de Salud , Instituciones Académicas , Suecia/epidemiologíaRESUMEN
AIM: While associations between vitamin D deficiency and neurodevelopmental disorders have been found, large studies on child vitamin D, neurodevelopment, and sex differences among the general population are lacking. This study aimed to investigate the association between child serum 25-hydroxyvitamin D (25(OH)D)) levels and neurodevelopmental problems (NDPs). METHODS: Serum 25(OH)D and NDPs were measured at age two among the subcohort study of the Japan Environment and Children's Study. NDPs were assessed with the Kyoto Scale of Psychological Development 2001 (Kyoto scale). Adjusted odds ratios (aORs) for the Kyoto-scale developmental quotient scores <70 were calculated, for postural-motor, cognitive-adaptive, and language-social domains and overall scores, adjusted for test month, latitude, small for gestational age, maternal age, and daycare attendance. RESULTS: Among 2363 boys and 2290 girls, boys had higher 25(OH)D levels, but scored lower in the Kyoto scale. For boys in the vitamin D deficiency (<20 ng/mL) group, aORs of scoring the Kyoto-scale DQs <70 were 2.33 (p = 0.006) for overall DQs, 1.91 (p = 0.037) for cognitive-adaptive, and 1.69 (p = 0.024) for language-social domains. For girls, results were inconclusive. CONCLUSION: Only boys showed a clear and cross-modal association between vitamin D deficiency and NDPs.
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Deficiencia de Vitamina D , Preescolar , Femenino , Humanos , Masculino , Japón/epidemiología , Vitamina D , Deficiencia de Vitamina D/complicaciones , Deficiencia de Vitamina D/epidemiología , VitaminasRESUMEN
Language development starts during the fetal period when the brain is sensitive to endocrine disruptions from environmental contaminants. This systematic review aims to systematically summarize the existing literature on early-life exposure to PFAS and children's language and communication development, which is an indicator of neurocognitive development. A structured literature search was conducted using three databases, PubMed, Scopus, and CINAHL, last updated in April 2023. The population was defined as children and young adults. PFAS exposure was assessed pre- or postnatally. The outcome was defined as a language and communication ability assessed with validated instruments, parental self-reports, or clinical language disorder diagnoses. In total, 15 studies were identified for subsequent analyses. Thirteen were performed in background-exposed populations and two in highly exposed populations. There were some indications of potential adverse effects; however, these were not consistent across child sex, age of assessment, or PFAS exposure levels. No systematic effect of early-life PFAS exposure on language and communication development was found. These inconclusive findings may partly be explained by the use of general test instruments with limited validity as to children's language and communication development. Further studies over a wider exposure range using specific language test instruments are needed.
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Ácidos Alcanesulfónicos , Contaminantes Ambientales , Fluorocarburos , Efectos Tardíos de la Exposición Prenatal , Niño , Femenino , Adulto Joven , Humanos , Lenguaje Infantil , Efectos Tardíos de la Exposición Prenatal/epidemiología , Desarrollo del Lenguaje , ComunicaciónRESUMEN
INTRODUCTION: 22q11.2 deletion syndrome (22qDS) has been associated with varying levels of social impairments, and with atypical visual scanning of faces. The present study explored whether self-reported sensitivity to eye contact might be related to these phenomena. METHOD: Individuals with confirmed 22qDS were interviewed about their experience and possible discomfort with eye contact. In cases where individuals expresesed discomfort, they were subsequently asked about coping mechanisms used to deal with this discomfort. In addition to self-reported eye contact discomfort, gaze to emotional faces was examined using eye tracking. RESULTS: In the subgroup of individuals who reported discomfort during eye contact, eye tracking results revealed a lower amount of gaze in the eyes of neutral faces, as well as the absence of the typical left visual field (LVF) bias, indicative of alterations in hemispheric lateralization. This subgroup also scored lower on a measure of everyday functioning. CONCLUSIONS: Our results show that, by simply asking individuals with this social and communicative disorder about eye gaze discomfort, we may better understand the specific challenges that they experience. Moreover, information gained from such first-person reports together with eye-tracking measures further informs about the integrity of their face processing system, as well as about the nature and degree of impairment in this population.
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Síndrome de DiGeorge , Reconocimiento Facial , Humanos , Síndrome de DiGeorge/complicaciones , Autoinforme , Fijación Ocular , CromosomasRESUMEN
BACKGROUND: The prevalence of self-reported suicidal ideation, suicide attempts and non-suicidal self-injury (NSSI) remains unclear among adults with autism unrecognised in childhood who attend psychiatric services. AIMS: We aimed to estimate the prevalence of suicidal ideation, suicide attempts and NSSI; identify factors associated with suicide attempts and NSSI; and describe NSSI in this group. METHOD: Sixty-three new patients at an adult psychiatric out-patient clinic (57% women, mean age 32 years) who met full (n = 52) or subthreshold (two A criteria and minimum of two B criteria; n = 11) DSM-5 criteria for autism spectrum disorder were included in the study. Clinical assessments included overall diagnostic review, Paykel's questions on passive and active suicidality, evaluation of NSSI with the Functional Assessment of Self-Mutilation, and results of cognitive tests. One follow-up of medical records was made. RESULTS: In this sample of psychiatric out-patients identified as first having autism in adulthood, almost a third (31%) of patients reported suicidal ideation during the past month, 86% had lifetime suicidal ideation and 25% reported at least one suicide attempt. Factors associated with suicide attempts included hazardous or harmful alcohol use and/or drug-related problems, and severity of depression. A total of 44% reported NSSI. Factors associated with NSSI were female sex, history of suicidal plans and antisocial personality disorder. Substance or alcohol use were often overlooked, especially in women. CONCLUSIONS: Suicidal ideation, suicide attempts and NSSI were very common in adults with autism who were recently referred to an out-patient psychiatric service. Suicidal ideation and NSSI were more common than suicide attempts. Clinicians should always consider suicidal ideation and NSSI in adult psychiatric patients with autism.
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It is unclear whether the literature on adolescent gender dysphoria (GD) provides evidence to inform clinical decision making adequately. In the final of a series of three papers, we sought to review published evidence systematically regarding the types of treatment being implemented among adolescents with GD, the age when different treatment types are instigated, and any outcomes measured within adolescence. Having searched PROSPERO and the Cochrane library for existing systematic reviews (and finding none at that time), we searched Ovid Medline 1946 -October week 4 2020, Embase 1947-present (updated daily), CINAHL 1983-2020, and PsycInfo 1914-2020. The final search was carried out on 2nd November 2020 using a core strategy including search terms for 'adolescence' and 'gender dysphoria' which was adapted according to the structure of each database. Papers were excluded if they did not clearly report on clinically-likely gender dysphoria, if they were focused on adult populations, if they did not include original data (epidemiological, clinical, or survey) on adolescents (aged at least 12 and under 18 years), or if they were not peer-reviewed journal publications. From 6202 potentially relevant articles (post deduplication), 19 papers from 6 countries representing between 835 and 1354 participants were included in our final sample. All studies were observational cohort studies, usually using retrospective record review (14); all were published in the previous 11 years (median 2018). There was significant overlap of study samples (accounted for in our quantitative synthesis). All papers were rated by two reviewers using the Crowe Critical Appraisal Tool v1·4 (CCAT). The CCAT quality ratings ranged from 71% to 95%, with a mean of 82%. Puberty suppression (PS) was generally induced with Gonadotropin Releasing Hormone analogues (GnRHa), and at a pooled mean age of 14.5 (±1.0) years. Cross Sex Hormone (CSH) therapy was initiated at a pooled mean of 16.2 (±1.0) years. Twenty-five participants from 2 samples were reported to have received surgical intervention (24 mastectomy, one vaginoplasty). Most changes to health parameters were inconclusive, except an observed decrease in bone density z-scores with puberty suppression, which then increased with hormone treatment. There may also be a risk for increased obesity. Some improvements were observed in global functioning and depressive symptoms once treatment was started. The most common side effects observed were acne, fatigue, changes in appetite, headaches, and mood swings. Adolescents presenting for GD intervention were usually offered puberty suppression or cross-sex hormones, but rarely surgical intervention. Reporting centres broadly followed established international guidance regarding age of treatment and treatments used. The evidence base for the outcomes of gender dysphoria treatment in adolescents is lacking. It is impossible from the included data to draw definitive conclusions regarding the safety of treatment. There remain areas of concern, particularly changes to bone density caused by puberty suppression, which may not be fully resolved with hormone treatment.
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Pediatric acute-onset neuropsychiatric syndrome (PANS) is an abrupt-onset neuropsychiatric disorder. PANS patients have an increased prevalence of comorbid autoimmune illness, most commonly arthritis. In addition, an estimated one-third of PANS patients present with low serum C4 protein, suggesting decreased production or increased consumption of C4 protein. To test the possibility that copy number (CN) variation contributes to risk of PANS illness, we compared mean total C4A and total C4B CN in ethnically matched subjects from PANS DNA samples and controls (192 cases and 182 controls). Longitudinal data from the Stanford PANS cohort (n = 121) were used to assess whether the time to juvenile idiopathic arthritis (JIA) or autoimmune disease (AI) onset was a function of total C4A or C4B CN. Lastly, we performed several hypothesis-generating analyses to explore the correlation between individual C4 gene variants, sex, specific genotypes, and age of PANS onset. Although the mean total C4A or C4B CN did not differ in PANS compared to controls, PANS patients with low C4B CN were at increased risk for subsequent JIA diagnosis (hazard ratio = 2.7, p value = 0.004). We also observed a possible increase in risk for AI in PANS patients and a possible correlation between lower C4B and PANS age of onset. An association between rheumatoid arthritis and low C4B CN has been reported previously. However, patients with PANS develop different types of JIA: enthesitis-related arthritis, spondyloarthritis, and psoriatic arthritis. This suggests that C4B plays a role that spans these arthritis types.
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Artritis , Complemento C4b , Humanos , Niño , Complemento C4b/genética , Complemento C4a/genética , Dosificación de Gen , Genotipo , Artritis/genéticaRESUMEN
BACKGROUND: Patients with 'underlying' autism spectrum disorder (ASD) constitute a significant minority in adult out-patient psychiatry. Diagnoses of previously unrecognised ASD are increasing in adults. Characteristics of patients with autism within adult out-patient psychiatry have not been sufficiently explored, and there have not been any systematic comparisons of characteristics between patients with and those without autism within adult out-patient psychiatric populations. AIMS: To examine psychiatrically relevant characteristics in autistic adult psychiatric out-patients, and to compare the characteristics with non-autistic adult psychiatric out-patients. METHOD: We assessed 90 patients who were referred to a Swedish psychiatric out-patient clinic and screened for ASD during 2019-2020. Sixty-three patients met the DSM-5 criteria for ASD or 'subthreshold' ASD. The 27 who did not meet the criteria for ASD were used as a comparison group. Assessments were made with structured and well-validated instruments, including parent ratings of developmental history. RESULTS: No differences were found between the groups regarding self-reported sociodemographic variables. The ASD group showed a higher number of co-occurring psychiatric disorders than the non-ASD group (t(88) = 5.17, 95% CI 1.29-2.91, d = 1.19). Functional level was lower in the ASD group (t(88) = -2.66, 95% CI -9.46 to -1.27, d = -0.73), and was predicted by the number of co-occurring psychiatric disorders. CONCLUSIONS: The results underscore the need for thorough assessment of psychiatric disorders in autistic patients in adult psychiatric services. ASD should be considered as a possible 'underlying' condition in adult psychiatry, and there is no easy way of ruling out ASD in this population.
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The 22q11.2 deletion syndrome (22q11.2DS), affects physical as well as cognitive and emotional functioning with increased risk for psychiatric and behavioral problems. This longitudinal study of 79 individuals (18-50 years) with 22q11.2DS investigated neurodevelopmental (NDD) and psychiatric disorders in adulthood, evaluated the stability of childhood diagnoses over time, and examined associations between clinical characteristics in childhood/adolescence and diagnostic outcome in adult age. Examination using validated instruments for cognitive, psychiatric, and global functional problems in the context of an in-depth clinical evaluation found adult age stability of NDD diagnoses made in childhood, however, rates increased at follow-up. Rates of anxiety, mood, and psychotic disorders were high, with a majority meeting diagnostic criteria for one or more psychiatric disorder. The rate of psychotic disorders was much lower compared to many other studies. Variability in functioning at follow-up was primarily associated with intellectual ability at T1. The findings obtained highlight the increased risk of NDD and psychiatric problems and of cognitive impairment and reduced levels of global functioning over time. Results emphasize the importance of clinical follow-up to enable appropriate support for the promotion of optimal health along with a need for future research on effective interventions and treatment strategies.
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Síndrome de DiGeorge , Trastornos Mentales , Trastornos Psicóticos , Adolescente , Adulto , Humanos , Síndrome de DiGeorge/complicaciones , Estudios Longitudinales , Estudios Prospectivos , Trastornos Psicóticos/genética , Trastornos Psicóticos/complicacionesRESUMEN
Neuropsychiatric and neurodevelopmental disorders are often associated with coordination problems. Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) constitutes a specific example of acute and complex symptomatology that includes difficulties with motor control. The present proof-of-concept study aimed at testing a new, bespoke tablet-based motor coordination test named SpaceSwipe, providing fine-grained measures that could be used to follow-up on symptoms evolution in PANS. This test enables computationally precise and objective metrics of motor coordination, taking into account both directional and spatial features continuously. We used SpaceSwipe to assess motor coordination in a group of children with PANS (n = 12, assessed on in total of 40 occasions) and compared it against the motor coordination subtest from the Beery-Buktenica Developmental Test of Visual-Motor Integration (Beery VMI) 6th edition, traditionally used to follow-up symptomatology. Using a bivariate linear regression, we found that 33 s of the directional offset from tracking a moving target in SpaceSwipe could predict the Beery VMI motor coordination (VMI MC) raw scores (mean absolute error: 1.75 points). Positive correlations between the predicted scores and the VMI MC scores were found for initial testing (radj = 0.87) and for repeated testing (radj = 0.79). With its short administration time and its close prediction to Beery VMI scores, this proof-of-concept study demonstrates the potential for SpaceSwipe as a patient-friendly tool for precise, objective assessment of motor coordination in children with neurodevelopmental or neuropsychiatric disorders.