How language affects social cognition and emotional competence in typical and atypical development: A systematic review.

BACKGROUND: The ability to understand the mental state of others (social cognition), as well as language, is crucial for children to have good social adaptation. Social cognition (SC) has been shown to be a hierarchical model of three factors (Cognitive, intermediate and affective SC) interrelated with linguistic processes. Children on the autism spectrum and children with developmental language disorder (DLD) or social communication disorder (SCD) manifest language and SC difficulties, albeit in different ways. AIMS: This systematic review aims to find how language and SC interact with each other and identify linguistic and socio-affective profiles in the target population. METHODS: About 1593 articles were systematically reviewed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guide in November 2022, obtaining, through inclusion/exclusion criteria, a total of 38 articles for qualitative assessment. The majority of them were on autism (26) or DLD (14) and to a lesser extent SCD (3). MAIN CONTRIBUTION: Although SC is related to all components of language, SC is strongly related to narrative and morphosyntax and partially related to lexicon. Pragmatics shows a complex relation with SC due to greater sensitivity to other factors such as age or task, and prosody appears to be more related to emotional processes. Besides, autistic, SCD and DLD children showed differences in their language and socio-affective performance. Mainstream DLD children have lower performance in general language, where autistic and SCD children have more linguistic variation and are lower in pragmatic and SC tasks, SCD children being more associated with language production difficulties and autistic children with both receptive and productive language. CONCLUSION: Each language component has a different interaction with SC. Likewise, different linguistic profiles are partially found for each disorder. These results are important for future lines of research focusing on specific components of interaction and socio-emotional processes, as well as for clinical and educational treatment. WHAT THIS PAPER ADDS: What is already known on the subject The hierarchical model of Schurz et al. (2021), divide social cognition into three brain constructs: cognitive social cognition (CSC), affective social cognition (ASC) and intermediate social cognition (ISC). They observe a large relationship between language and ISC, a fact that has been corroborated with some other studies. Studies have also found lower linguistic and socio-affective abilities in children with autism and language and communication disorders compared with children with neurotypical development, and large behavioural and neurocognitive overlaps between these disorders (Durrleman et al., 2019; Löytömäki et al., 2019). What this paper adds to existing knowledge This is the first review that relates all linguistic components (narrative, lexicon, morphosyntax, pragmatic and prosody) with the three constructs of social cognition (Cognitive, intermediate and affective). Moreover, it is the first review that studies the socio-linguistic factors comparing autism, developmental language disorder and social communication disorder with each other and with neurotypical development in children aged from 4 to 9 years. What are the potential or actual clinical implications of this work? Understanding how language and social cognition interact with each other in autism spectrum disorder, developmental language disorder and social communication disorder allows us to trace socio-linguistic profiles for each of the studied disorders, understand better children with these difficulties, and, with this, find specific potential intervention points to improve and prevent these difficulties.

Formerly degenerate seventh zinc finger domain from transcription factor ZNF711 rehabilitated by experimental NMR structure.

Domain Z7 of nuclear transcription factor ZNF711 has the consensus last metal-ligand H23 found in odd-numbered zinc-fingers of this protein replaced by a phenylalanine. Ever since the discovery of ZNF711 it has been thought that Z7 is probably non-functional because of the H23F substitution. The presence of H26 three positions downstream prompted us to examine if this histidine could substitute as the last metal ligand. The Z7 domain adopts a stable tertiary structure upon metal binding. The NMR structure of Zn2+-bound Z7 shows the classical ßßα-fold of CCHH zinc fingers. Mutagenesis and pH titration experiments indicate that H26 is not involved in metal binding and that Z7 has a tridentate metal-binding site comprised of only residues C3, C6, and H19. By contrast, an F23H mutation that introduces a histidine in the consensus position forms a tetradentate ligand. The structure of the WT Z7 is stable causing restricted ring-flipping of phenyalanines 10 and 23. Dynamics are increased with either the H26A or F23H substitutions and aromatic ring rotation is no longer hindered in the two mutants. The mutations have only small effects on the Kd values for Zn2+ and Co2+ and retain the high thermal stability of the WT domain above 80 °C. Like two previously reported designed zinc fingers with the last ligand replaced by water, the WT Z7 domain is catalytically active, hydrolyzing 4-nitophenyl acetate. We discuss the implications of naturally occurring tridentate zinc fingers for cancer mutations and drug targeting of notoriously undruggable transcription factors. Our findings that Z7 can fold with only a subset of three metal ligands suggests the recent view that most everything about protein structure can be predicted through homology modeling might be premature for at least the resilient and versatile zinc-finger motif.

X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review.

X-linked intellectual developmental disorder is a rare X-linked genetic disease, manifested as heart disease, intellectual impairment, and developmental disorders. We report a male infant who presented with dyspnea after birth. Physical examination on admission revealed poor responsiveness, deep eye sockets, a small mandible, abnormalities of the outer ears, and reduced limb muscle tone. The child was moaning with shortness of breath and a positive three-concave sign without pulmonary rales. The heart sounds were weak with a grade 2/6 diastolic heart murmur. Echocardiography showed an enlarged heart with increased trabeculae in the left ventricular muscle wall. X-linked mental retardation syndrome type 34(MRXS34, OMIM# 300967) was diagnosed after exome sequencing showed a c.1131G > A hemizygous variant in the NONO gene. After timely therapy including respiratory support, cardiac glycosides, and diuresis, the child's condition improved and he was discharged at one month of age. A literature review showed that, to date, 22 live births with X-linked mental retardation have been reported. The NONO-related phenotype can be summarized as a neurological and cardiac developmental disorder, which may be accompanied by multisystem malformations. The present case enriches the knowledge of X-linked intellectual developmental syndromes.

Estratégia materna de enfrentamento à confirmação de infecção pelo vírus Zika na gravidez: reflexo no neurodesenvolvimento dos seus filhos / Maternal strategy for coping with confirmation of Zika virus infection during pregnancy: reflection on the neurodevelopment of their children

Resumo A infecção pelo vírus Zika na grávida resulta em alterações do desenvolvimento neuropsicomotor nas crianças afetadas, sendo importante fator de estresse para essas mulheres. O objetivo deste estudo foi avaliar a estratégia de enfrentamento das mães a essa situação e como isto se refletiu no neurodesenvolvimento dos seus filhos. Estudo transversal com 46 mulheres e seus filhos. A estratégia de enfrentamento foi avaliada pelo Inventário Brief Cope, aplicado às mães, e o desenvolvimento neuropsicomotor das crianças, foi avaliado aos 24 meses de idade pelas Escalas Bayley III. A estratégia predominante de enfrentamento mais frequentemente usada pelas mães foi a de aproximação (73,9%), com destaque para o componente planejamento. A utilização da estratégia de negação esteve associada aos escores mais baixos na escala Bayley III, sendo nessa escala o componente mais utilizado o de auto culpabilização. A religião foi o componente de apoio auxiliar mais utilizado pelas mães. A utilização da negação como estratégia predominante de enfrentamento pelas mães mostrou associação com os piores resultados na avaliação do desenvolvimento infantil e reforça a necessidade do apoio a estas mulheres, para que possam lidar mais diretamente com os sentimentos decorrentes das situações vivenciadas.

Abstract Zika virus infection in pregnant women results in changes in neuropsychomotor development in affected children, being an important stress factor for these women. This study aimed to evaluate the mothers' coping strategy in this situation and how this was reflected in the neurodevelopment of their children. Cross-sectional study with 46 women and their children. The coping strategy was assessed using the Brief Cope Inventory, applied to mothers, and the children's neuropsychomotor development was assessed at 24 months of age using the Bayley III Scales. The predominant coping strategy most frequently used by mothers was approach (73.9%), with emphasis on the planning component. The use of the avoidant coping was associated with lower scores on the Bayley III scale, with self-blame being the most used component on this scale. Religion was the auxiliary support component most used by mothers. The use of avoidant as the predominant coping strategy by mothers was associated with the worst results in the assessment of child development and reinforces the need to support these women, so that they can deal more directly with the feelings arising from the situations they experience.

Autosomal Dominant Intellectual Development Disorder-6 (MRD6) Without Seizures Linked to a De Novo Mutation in the grin2b Gene Revealed by Exome Sequencing: A Case Report of a Moroccan Child.

Autosomal dominant intellectual development disorder-6 (MRD6) arises from a grin2b gene mutation, inducing neurodevelopmental issues. The effects of MRD6 encompass cognitive disabilities, seizures, muscle tone decline, and autism-like traits. Its severity ranges from mild impairment to severe epilepsy. The disorder's rarity is emphasized by roughly 100 reported GRIN2B-related cases, spotlighting the gene's significance in brain development. We present the case of a three-year-old Moroccan boy who was referred to a neuropediatric department for a molecular diagnosis. Initial genetic testing yielded inconclusive results, and subsequent tests for Angelman syndrome and metabolic diseases showed no abnormalities. Given the complexity of the disorder, exome sequencing was employed to identify the underlying genetic cause. Exome sequencing identified a nonsense (STOP) mutation c.3912C>G (p.Tyr1304Ter) in the grin2b gene in the heterozygous state known to be present in MRD6 (Online Mendelian Inheritance in Man (OMIM) 613970). The family segregation study shows that this is a de novo variant, which is confirmed by Sanger sequencing. This variant has not been previously reported in the GnomAD database. Based on current scientific knowledge, the variant is considered pathogenic (PVS1, PS2, PM2, PP3, PP5) according to the criteria of the American College of Medical Genetics and Genomics (ACMG). The mutation in the grin2b gene (p.Tyr1304Ter) was predicted to be deleterious through bioinformatics analysis tools. This study highlights the crucial role of the grin2b gene in normal brain development and communication within the nervous system. It also sheds light on the impact of a novel genetic mutation, identified through exome sequencing, on causing an intellectual developmental disorder in a child patient from Morocco.

[Genetic aspects of speech disorders in children]. / Geneticheskie aspekty narushenii rechi u detei.

Speech disorders still remains one of the cornerstones of pediatric neurology. Against the backdrop of gene diagnostic development, there are a huge amount of information about the role of genetic and chromosomal abnormalities in pathogenesis of speech disorders. In present article authors presenting an actual data on genetic basis of different types of speech disorders. Moreover, authors describing a clinical case of a patient with genetically determined developmental disorder, caused by KMT5B mutation validated by Sanger method.

Facial and ocular manifestations of male patients affected by the HUWE1-related intellectual developmental disorder.

Turner-type X-linked syndromic intellectual developmental disorder (MRXST) is a rare neurodevelopmental disorder. MRXST is caused by pathogenic variants in the HUWE1 gene on chromosome Xp11.22. The HUWE1 gene encodes a ubiquitin ligase, which has downstream effects on the n-MYC protein and DLL3 Notch ligand, ultimately affecting neuronal differentiation. In addition to intellectual disability and developmental delay, other clinical features such as absent or delayed speech, skeletal abnormalities, abnormalities in hands or feet, seizures, and hypotonia have been described in case reports. Facial dysmorphic features and eye manifestations have been reported in patients with MRXST, but have not been identified as distinctive to this condition. We report two cases of individuals affected by HUWE1-Related Intellectual Developmental Disorder and present a review of literature of male patients affected by this disorder. Based on the literature review and findings in our two patients, it is our observation that patients with MRXST present with distinctive features, which include broad nasal tip, root, or prominent nose (39%), blepharophimosis (27%), epicanthic folds (25%), ear abnormalities (25%), thin upper lip (23%), and deep set eyes (23%). Furthermore, we note that oculofacial abnormalities are seen more frequently in patients with missense variants than patients with duplications in the HUWE1 gene. The findings noted in this paper may help clinicians suspect a diagnosis of MRXST when presented with these distinctive ocular and facial features.

Impairments in fine motor skills in children with Acute Lymphoblastic Leukaemia. A cross-sectional study.

AIM: We evaluated fine motor skills; precision, motor integration, manual dexterity, and upper-limb coordination according to sex and risk stratification in children with Acute Lymphoblastic Leukaemia (ALL). METHODS: We evaluated twenty-nine children in the maintenance phase aged 6 to 12 years with the Bruininks-Oseretsky Test of Motor Proficiency-second edition (BOT-2), and sex and age-specific norm values of BOT-2 were used to compare our results. RESULTS: We found lower scores on the upper-limb coordination subtest, p = 0.003 and on the manual coordination composite, p = 0.008, than normative values. Most boys performed "average" on both the subtests and the composites, but girls showed lower scores with a mean difference of 7.69 (95%CI; 2.24 to 3.14), p = 0.009. Girls' scale scores on the upper-limb coordination subtest were lower than normative values, with mean difference 5.08 (95%CI; 2.35 to 7.81), p = 0.006. The mean standard score difference in high-risk patients was lower than normative on the manual coordination composite, 8.18 (95%CI; 2.26 to 14.1), p = 0.015. High-risk children also performed below the BOT-2 normative on manual dexterity 2.82 (95%CI; 0.14 to 5.78), p = 0.035 and upper limb coordination subtest 4.10 (95%CI; 1.13 to 7.05), p = 0.028. We found a decrease in fine motor precision in children with a higher BMI, rho= -0.87, p = 0.056 and a negative correlation between older age and lower manual dexterity, r= -0.41 p = 0.026; however, we did not find any correlation with the weeks in the maintenance phase. CONCLUSIONS: Fine motor impairments are common in children with ALL in the maintenance phase; it is important to identify these impairments to early rehabilitation.

Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling-case report.

Intellectual development disorder, autosomal dominant 43 (MRD43) is an autosomal dominant disorder caused by heterozygous mutations in the HIVEP2 gene. In this report, we describe a case of a 4-year-old boy with global development delay, hypotonia, and dysmorphic features, in whom the finding of a heterozygous nonsense pathogenic variant in exon 5 of HIVEP2 [c.2827C>T p. (Arg943*)] through WES established a MRD43 diagnosis. Our patient's phenotype overlaps with other MRD43 descriptions in the literature. Unlike previously reported cases, where the condition was almost invariably de novo, the healthy mother in this case presented mosaicism for the pathogenic variant. Thus, the recurrence risk increased significantly from 1% to up to 50%. The description of a variant inherited for MDR43 is singular in the literature and this description highlights the importance of parental studies for accurate genetic counseling, particularly for family planning.

Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review.

Background: Calcium ions are involved in several human cellular processes; nevertheless, the relationship between calcium channelopathies (CCs) and autism spectrum disorder (ASD) or intellectual disability (ID) has been previously investigated. We delineate the spectrum of clinical phenotypes and the symptoms associated with a syndrome caused by an inherited gain-of-function mutation in CACNA1D in a family with a history of neuropsychiatric disorders. We also review the clinical and molecular phenotype of previously reported variants of CACNA1D. Case presentation: We report the case of a 9-year-old female patient, diagnosed with ASD, severe ID, hyperactivity, and aggressive impulsive behaviors. The father, who was a 65-year-old at the time of his death, had ID and developed major depressive disorder with catatonic features and nihilistic delusion, followed by rapidly progressive dementia. He died after experiencing prolonged seizures followed by post-cardiac arrest. The patient's sister was a 30-year-old woman, known to have a severe ID with aggressive behaviors and sleep disorders. The sister has been diagnosed with bipolar disorder and psychosis. Through whole exome sequencing, a heterozygous previously identified and functionally characterized missense likely pathogenic variant was identified in the CACNA1D gene NM_001128840.3: c.2015C > T (p.Ser672Leu). These findings are consistent with the genetic diagnosis of autosomal dominant primary aldosteronism, seizures, and neurological abnormalities. This variant was found in the heterozygous status in the patient, her father, and her affected sister. Conclusion: This case report will help to determine the key clinical features of this syndrome, which exhibits variable clinical presentations.

The Quality of Life Supports Model as a Vehicle for Implementing Rights.

The Quality of Life Supports Model (QOLSM) is emerging as a new framework that is applicable to people with disabilities in general, but specially to people with intellectual and developmental disabilities (IDD). The aim of this conceptual paper is twofold. Firstly, it aims to show the overlap between the QOLSM and the Convention on the Rights of People with Disabilities (CRPD), highlighting how the former can be used to address many of the goals and rights embedded in the latter. Secondly, the article seeks to illustrate the connection between these two frameworks and highlight the importance of acknowledging and measuring the rights of people with IDD. Therefore, we posit that the new #Rights4MeToo scale is ideal for: (a) providing accessible means and opportunities for people with IDD to identify and communicate their needs regarding their rights; (b) enhancing the supports and services that families and professionals provide to them; and (c) guiding organizations and policies to identify strengths and needs in relation to rights and quality of life. We also discuss future research needs and summarize the main findings of this article, highlighting its implications for practice and research.

The role of serine/threonine phosphatases in human development: Evidence from congenital disorders.

Reversible protein phosphorylation is a fundamental regulation mechanism in eukaryotic cell and organismal physiology, and in human health and disease. Until recently, and unlike protein kinases, mutations in serine/threonine protein phosphatases (PSP) had not been commonly associated with disorders of human development. Here, we have summarized the current knowledge on congenital diseases caused by mutations, inherited or de novo, in one of 38 human PSP genes, encoding a monomeric phosphatase or a catalytic subunit of a multimeric phosphatase. In addition, we highlight similar pathogenic mutations in genes encoding a specific regulatory subunit of a multimeric PSP. Overall, we describe 19 affected genes, and find that most pathogenic variants are loss-of-function, with just a few examples of gain-of-function alterations. Moreover, despite their widespread tissue expression, the large majority of congenital PSP disorders are characterised by brain-specific abnormalities, suggesting a generalized, major role for PSPs in brain development and function. However, even if the pathogenic mechanisms are relatively well understood for a small number of PSP disorders, this knowledge is still incomplete for most of them, and the further identification of downstream targets and effectors of the affected PSPs is eagerly awaited through studies in appropriate in vitro and in vivo disease models. Such lacking studies could elucidate the exact mechanisms through which these diseases act, and possibly open up new therapeutic avenues.

[Early detection of primary developmental language disorders-increasing relevance due to changes in diagnostic criteria?] / Früherkennung primärer Sprachentwicklungsstörungen ­ zunehmende Relevanz durch Änderung der Diagnosekriterien?

Language development disorders (in German: Sprachentwicklungsstörungen, SES) are the most common developmental disorders in childhood. In contrast to "secondary SES," "primary SES" (prevalence about 7%) are not (co-)caused by other developmental disorders or diseases. In the German modification of the International Statistical Classification of Diseases and Related Health Problems (ICD-10-GM-22), primary SES are referred to as "circumscribed developmental disorders of speech and language" (in German: USES; international previously known as Specific Language Impairment SLI), with an intelligence quotient (IQ) < 85 as an exclusion criterion, among other criteria. In ICD-11, primary SES are listed as "developmental language disorders" (DLD).German-speaking speech and language therapists would now like to replace the term "USES" with "DLD" using the diagnostic criteria proposed by the international CATALISE consortium (Criteria and Terminology Applied to Language Impairments Synthesizing the Evidence), in an effort to redefine the disorder. However, according to this conceptualization, only children with an intellectual disability (IQ < 70) would be excluded from the diagnosis. This change in the diagnostic criteria would most likely result in an increase in prevalence of DLDs. This makes the issue of early detection more important than ever. This discussion paper explains that the public health relevance of primary SES is growing and that systematic early detection examinations will play an even more important role. With early diagnosis and treatment, risks in the areas of mental health, behaviour and skill development can be mitigated.Currently, diagnosis (and therapy) are usually carried out relatively late. The way out could lie in the application of neurobiological parameters. However, this requires further studies that examine child cohorts for early indicators in a prospective longitudinal design. The formation of an early detection index from several indicators should also be considered.

Relação entre sofrimento psíquico e atraso na aquisição da linguagem nos dois primeiros anos de vida / Relationship between psych distress and delay in language acquisition in the first two years of life / Relación entre sufriemento psíquico y retraso en la adquisición del lenguaje en los dos primeros años de vida

Objetivo: Analisar relação entre sofrimento psíquico e atraso na aquisição da linguagem. Método: uma amostra de 101 bebês, acompanhados dos três aos 24 meses por meio de filmagens das interações com suas mães, foram avaliados por protocolos de avaliação do psiquismo (Sinais PREAUT, roteiro IRDI e MCHAT) e pelos sinais enunciativos de aquisição da linguagem (SEAL). Os dados foram analisados estatisticamente por meio do teste de correlação de Pearson. Resultados: Observou-se maior correlação entre o roteiro IRDI, os Sinais PREAUT no primeiro semestre de vida. No segundo, terceiro e quarto semestre de vida dos bebês, o risco psíquico e o atraso na aquisição da linguagem coincidem, mas também há casos de atraso na aquisição da linguagem sem risco psíquico. Conclusão: Houve relação significativa entre presença de sofrimento psíquico e atraso na aquisição da linguagem.

Objective: To analyze the relationship between psychic distress and language acquisition delay. Method: a sample of 101 babies, followed from three to 24 months of age through videotaping of interactions with their mothers, were evaluated by psychic protocols (PREAUT signs, IRDI and MCHAT script) and by the enunciative signs of language acquisition (SEAL). Data were analyzed using the STATISTICA 9.0 software. Results: There was a greater correlation between the IRDI script and the PREAUT signs in the first semester of life. In the second, third and fourth semester of life, the psychic risk and the delay in language acquisition coincide, but there are cases of delay in the acquisition of language without psychic risk. Conclusion: There was a significant relationship between the presence of psychic distress and language acquisition delay.

Objetivo: Analizar la relación entre sufrimiento psíquico y retraso en la adquisición del lenguaje. Método: una muestra de 101 bebés, seguidos desde los 3 a los 24 meses de edad mediante videograbación de interacciones con sus madres, fueron evaluados mediante protocolos de riesgo psíquico (signos PREAUT, guión IRDI y MCHAT) y mediante los signos enunciativos de adquisición del lenguaje (SEAL) . Los datos se analizaron con el software STATISTICA 9.0. Resultados: Hubo una mayor correlación entre el guión IRDI y los signos PREAUT en el primer semestre de vida. En el segundo, tercer y cuarto semestre de vida, el riesgo psíquico y el retraso en la adquisición del lenguaje coinciden, pero existen casos de retraso en la adquisición del lenguaje sin riesgo psíquico. Conclusión: hubo una relación significativa entre la presencia de sufriemento psíquico y el retraso en la adquisición del lenguaje.

A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report.

BACKGROUND: Oculo-facio-cardio-dental syndrome is a rare X-linked dominant syndrome, characterized by radiculomegaly, congenital cataracts, dysmorphic facial features, and congenital heart disease. Because of the rarity, this syndrome could be misdiagnosed by the clinician, especially for the infant who may present only one to two systems involved. CASE PRESENTATION: Here we report a 3-month-old female infant presenting with typical clinical manifestations of oculo-facio-cardio-dental syndrome, like ocular, facial, cardiac, and skeletal abnormalities, and the genetic analyses of the proband and her parents were provided. Genetic evaluations were completed using whole exon sequencing, which revealed a novel heterozygous mutation between exons 7 and 14 of the BCOR gene(OMIM:300485) in this patient but not in her parents. This mutation is likely to encode a premature stop codon producing a truncated protein. Our patient was diagnosed early enough to allow for the cardiac defects to be treated first, and she will be closely followed up to ensure that any new presentations are treated in a timeous manner. CONCLUSION: This patient fits the diagnostic criteria for oculo-facio-cardio-dental syndrome and is the youngest oculo-facio-cardio-dental syndrome patient ever reported, which is most important for her prognosis. In addition, this manuscript also describes a novel potenitally causative mutation for this syndrome.

Neuropsychological and behavioural profiles of students with intellectual development disorder on parents and teachers' perceptions.

BACKGROUND: Children with intellectual development disorder (IDD) have high rates of comorbid neuropsychological and behavioural problems. However, there are not many studies on this population in middle-income and low-income countries. Therefore, we aimed to investigate the prevalence of neuropsychological and behavioural problems in students with and without IDD and to assess the correlation between the responses from informants (parents and teachers) and the clinical diagnoses in Brazil. METHODS: After clinical diagnosis, 78 male and female students (7-15 years old) were divided into two groups: children with IDD (n = 39) and children without IDD (n = 39). The Child Behaviour Checklist (CBCL) and Teacher's Report Form (TRF) scales were used to track neuropsychological and behavioural problems. Calculations of prevalence ratios were performed using Poisson regression with Wald tests. The CBCL and TRF results were compared between groups with Mann-Whitney U-tests and receiver operating characteristic (ROC) analyses. The agreement between scales was assessed using the Spearman correlation test. RESULTS: Neuropsychological and behavioural problems were significantly more prevalent in students with IDD. The average amount of CBCL problems was significantly higher than that of TRF in the dimensions of thought, attention, somatic, attention deficit/hyperactivity, opposition defiant and total problems. Low-to-moderate correlations between CBCL and TRF dimensions in the IDD group were observed. ROC analyses revealed that the dimensions of internalising problems and total scores reflecting CBCL and TRF problems were the most important factors for identifying neuropsychological and behavioural problems in the IDD group. CONCLUSIONS: Students with IDD require early identification of behavioural and emotional symptoms to avoid the underdiagnoses of various mental health problems, especially those with internalising characteristics. The CBCL and TRF may assist in the early screening of these comorbidities.

Midiendo el espectro de los trastornos del lenguaje a los trastornos del espectro autista: Consenso Latinoamericano Delphi Modificado / Measuring the spectrum from language disorders to autism spectrum disorders: modified Delphi Latin American Consensus

INTRODUCCIÓN: Existen diferentes posturas en cuanto a la delimitación entre los trastornos del lenguaje y de la comunicación; sobre todo al acuñar las definiciones, sus limitantes y particularmente poder medir los pronósticos y diferentes procesos a lo largo del neurodesarrollo. El presente consenso busca unir las diferentes visiones de la región latinoamericana sobre los Trastornos del Desarrollo del Lenguaje (TDL) y Trastornos del Espectro Autista (TEA), homologar taxonomías y evolución a lo largo de los primeros años de vida. MÉTODO: Se realizó un estudio Delphi Modificado para llegar a un consenso sobre la definición más adecuada y diagnóstico temprano de los TDL y TEA. RESULTADOS: Un total de 34 profesionales de 11 países de la región aceptaron la invitación para participar en el consenso e incluyó a distintos especialistas a cargo del cuidado de estos pacientes. Se realizaron dos rondas de evaluación llegando a un acuerdo y consenso en todos los ítems. CONCLUSIONES: El término "Riesgo para Trastornos de la Comunicación y del Lenguaje" es creado para referirse a los niños que no caen en ninguna categoría diagnóstica en etapas tempranas del desarrollo. Consideramos que tanto el uso de este término como el del resto de los mismos, alcanzados por consenso, permitirá coincidir en distintos puntos para la caracterización del TDL y TEA, todo ello contribuirá a evaluar de forma más específica cuáles son las intervenciones adecuadas que mejoren el pronóstico y modifiquen las trayectorias del desarrollo de esta población en nuestra región.

INTRODUCTION: There are different points of view regarding the delimitation between language and communication disorders; especially when establishing the definitions, their limitations and above all being able to measure prognoses and different processes throughout neurodevelopment. The present consensus seeks to unify the different points of view of the Latin American region on Language Development Disorders (LDD) and Autism Spectrum Disorders (ASD), standardize the taxonomies and evolution throughout the first years of life. METHOD: A Modified Delphi study was carried out to reach a consensus on the most adequate definition and early diagnosis of TDL and ASD. RESULTS: A total of 34 professionals from 11 countries in the region accepted the invitation to participate in the consensus and included different specialists in charge of the care of these patients. Two rounds of evaluation were carried out, reaching an agreement and consensus on all items. CONCLUSIONS: The term "Risk for Communication and Language Disorders" is created to refer to children who do not fall into any diagnostic category in early stages of development. We consider that using this term as well as the rest of the terms reached by consensus in the present work will allow to match in different points for the characterization of TDL and ASD, this will contribute to a more specific evaluation regarding the appropriate interventions to improve prognosis and modify development trajectories of this population in our region.

Survey of autism spectrum disorder in Chandigarh, India.

Background & objectives: Prevalence of autism spectrum disorder (ASD) has been reportedly on the rise in western literature. However, accurate data from India are not available. The present study was planned to assess the community-based prevalence of ASD in Chandigarh, India. Methods: This study was a two-stage survey of representative child population of Chandigarh using stratified random sampling technique, covering 8820 children between the ages 1.5 and 10 yr. Proportionate population from urban (82.3%), rural (4.3%) and slum area (13.4%) were included in the study and screened using Chandigarh autism screening instrument (CASI). Thirty two children scored above cut-off, of whom two had shifted to other places before they could be assessed and 30 were assessed in detail. Detailed assessment was done using Autism Diagnostic Interview-Revised and Childhood Autism Rating Scale-2; diagnosis was made according to the Diagnostic and Statistical Manual-5. Nineteen were diagnosed with ASD. Results: Of the 8451 children screened between the age group of one and a half to 10 yr, 19 (10 boys and 9 girls) were diagnosed as ASD, thus the prevalence of ASD was found to be 2.25 per 1000 (0.69-5.19, 95% confidence interval) children in Chandigarh. No child below the cut-off on the screening instrument was diagnosed as ASD. Interpretation & conclusions: The results suggest that the prevalence of ASD in Chandigarh was in tandem with other reports from across India and was lower than western countries.

Stress in Caregivers and Children with a Developmental Disorder Who Receive Rehabilitation.

This study aimed to evaluate the stress levels of caregivers and children with developmental disorders who were receiving rehabilitation treatment. The relationships between stress levels and factors such as early rehabilitation and home rehabilitation were quantified. METHODS: This study was conducted in children with development disorders, aged from 1.5 years to 18 years, who were undergoing rehabilitation. The Korean version of the Child Behavior Checklist (K-CBCL) and the Adult Self-Report (K-ASR) were used to evaluate stress levels in children and caregivers, respectively. RESULTS: Questionnaires were provided to 150 caregivers who agreed to participate. However, only 76 copies of the K-CBCL and 75 copies of the K-ASR were collected. The mean K-CBCL and K-ASR t scores were in the normal range. The K-CBCL score correlated positively with the K-ASR score (p value < 0.5). K-CBCL externalizing problems score correlated positively with the age at the start of rehabilitation, and the K-CBCL and K-ASR externalizing problems scores correlated negatively with home treatment delivered by caregivers. CONCLUSIONS: Stress levels of children and caregivers were closely related. Home rehabilitation provided by caregivers reduced stress in both caregivers and children. Early rehabilitation did not impart additional psychological burden on caregivers or children.