scholarly journals A Narrative Review of Function-Focused Measures for Children With Neurodevelopmental Disorders

2021 ◽  
Vol 2 ◽  
Author(s):  
Kajaani Shanmugarajah ◽  
Peter Rosenbaum ◽  
Mohammad Zubairi ◽  
Briano Di Rezze
Keyword(s):  
Clinical Practice ◽  
Neurodevelopmental Disorders ◽  
Communication Disorders ◽  
Autism Spectrum ◽  
Narrative Review ◽  
Measurement Development ◽  
International Classification Of Functioning ◽  
Initial Development ◽  
Test Retest Reliability ◽  
Clinical Measures

Clinical measures in health and rehabilitation settings are often used to examine child functioning to better support the diverse needs of children with neurodevelopmental disorders (NDD) and their families. The WHO's International Classification of Functioning, Disability, and Health (ICF) framework reflects a focus of health beyond biomedical deficits, using the concept of functioning to create opportunities for measurement development involving this construct. In the measures developed in the field of childhood NDD, it is unclear whether and how these tools measure and incorporate the ICF framework and its domains within health care contexts. Understanding how these measures utilize the ICF will enable researchers and clinicians to operationalize function-focused concepts in studies and clinical practice more effectively. This narrative review aims to identify and describe function-focused measures that are based on the ICF for children with NDD, as described in the peer-reviewed literature. This review used a systematic search strategy with multiple health-focused databases (Medline, PsycInfo, EMBASE, EMCARE), and identified 14 clinical measures that provide direct support for children (aged 0-21) with NDD in pediatric health (and other) settings. Results described the measures that were primarily developed for three main diagnostic populations [cerebral palsy, autism spectrum disorder, and communication disorders]; had varying contextual use (clinical-only or multiple settings); and for which authors had conducted psychometric tests in the measure's initial development studies, with the most common being content validity, interrater reliability, test-retest reliability. Participation (79%, n = 11) & Activities (71%, n = 10) were the most common ICF domains captured by the set of measurement tools. Overall (71%, n = 10) of the identified measures utilized multiple ICF domains, indicating that the “dynamic nature” of the interactions of the ICF domains was generally evident, and that this result differentiated from “linking rules,” commonly used in research and clinical practice. The implications of these findings suggest that clinical measures can be an effective application of the ICF's defined concepts of functioning for children with NDD.

Neurodevelopmental disorders among Spanish school-age children: prevalence and sociodemographic correlates

2021 ◽  
pp. 1-11
Author(s):  
Rosa Bosch ◽  
Mireia Pagerols ◽  
Cristina Rivas ◽  
Laura Sixto ◽  
Laura Bricollé ◽  
...  
Keyword(s):  
Neurodevelopmental Disorders ◽  
Rating Scales ◽  
Communication Disorders ◽  
Autism Spectrum ◽  
Self Report ◽  
Motor Disorder ◽  
School Type ◽  
Final Population ◽  
Prevalence Estimates ◽  
Sociodemographic Correlates

Abstract Background Prevalence estimates of neurodevelopmental disorders (ND) are essential for treatment planning. However, epidemiological research has yielded highly variable rates across countries, including Spain. This study examined the prevalence and sociodemographic correlates of ND in a school sample of Spanish children and adolescents. Methods The Child Behaviour Checklist/Teacher's Report Form/Youth Self-Report and the Conners' Rating Scales were administered for screening purposes. Additionally, teachers provided information on reading and writing difficulties. Subjects who screened positive were interviewed for diagnostic confirmation according to the Diagnostic and Statistical Manual of Mental Disorders criteria. The final population comprised 6834 students aged 5–17. Multivariate analyses were performed to determine the influence of gender, age, educational stage, school type, socioeconomic status (SES), and ethnicity on the prevalence estimates. Results A total of 1249 (18.3%) subjects met criteria for at least one ND, although only 423 had already received a diagnosis. Specifically, the following prevalence rates were found: intellectual disabilities (ID), 0.63%; communication disorders, 1.05%; autism spectrum disorder (ASD), 0.70%; attention-deficit/hyperactivity disorder (ADHD), 9.92%; specific learning disorder (SLD), 10.0%; and motor disorders, 0.76%. Students of foreign origin and from low SES evidenced higher odds of having ID. Boys were more likely to display ASD or a motor disorder. Age, SES, and ethnicity were significant predictors for SLD, while communication disorders and ADHD were also associated with gender. Conclusions The prevalence of ND among Spanish students is consistent with international studies. However, a substantial proportion had never been previously diagnosed, which emphasise the need for early detection and intervention programmes.

scholarly journals Neurodevelopmental Trajectories and Clinical Profiles in a Sample of Children and Adolescents With Early- and Very-Early-Onset Schizophrenia

2021 ◽  
Vol 12 ◽  
Author(s):  
Maria Pontillo ◽  
Roberto Averna ◽  
Maria Cristina Tata ◽  
Fabrizia Chieppa ◽  
Maria Laura Pucciarini ◽  
...  
Keyword(s):  
Children And Adolescents ◽  
Neurodevelopmental Disorders ◽  
Early Onset ◽  
Social Role ◽  
Treatment Plan ◽  
Neurodevelopmental Disorder ◽  
Communication Disorders ◽  
Autism Spectrum ◽  
Early Onset Schizophrenia ◽  
Assessment And Treatment

Schizophrenia before the age of 18 years is usually divided into two categories. Early-onset schizophrenia (EOS) presents between the ages of 13 and 17 years, whereas very-early-onset schizophrenia (VEOS) presents at or before the age of 12 years. Previous studies have found that neurodevelopmental difficulties in social, motor, and linguistic domains are commonly observed in VEOS/EOS patients. Recent research has also shown a high prevalence of neurodevelopmental disorders (e.g., intellectual disability, communication disorders, autism spectrum disorder, neurodevelopmental motor disorders) in VEOS/EOS patients, indicating genetic overlap between these conditions. These findings lend support to the neurodevelopmental continuum model, which holds that childhood neurodevelopmental disorders and difficulties and psychiatric disorders (e.g., schizophrenia) fall on an etiological and neurodevelopmental continuum, and should not be considered discrete entities. Based on this literature, in this study we focused on the overlap between neurodevelopmental disorders and schizophrenia investigating, in a large sample (N = 230) of VEOS/EOS children and adolescents, the clinical differences, at the onset of psychosis, between VEOS/EOS with neurodevelopmental disorder or neurodevelopmental difficulties and VEOS/EOS with no diagnosed neurodevelopmental disorder or neurodevelopmental difficulties. The findings showed that, in children and adolescents with a neurodevelopmental disorder or neurodevelopmental difficulties, psychosis onset occurred at an earlier age, was associated with more severe functional impairment (e.g., global, social, role), and was characterized by positive symptoms (e.g., grandiose ideas, perceptual abnormalities, disorganized communication) and disorganized symptoms (e.g., odd behavior or appearance, bizarre thinking). Instead, in children and adolescents without a neurodevelopmental disorder or neurodevelopmental difficulties, psychosis onset was mainly characterized by negative symptomatology (e.g., social anhedonia, avolition, expression of emotion, experience of emotions and self, ideational richness). Given these differences, the presence of a neurodevelopmental disorder or neurodevelopmental difficulties should be carefully investigated and integrated early into the assessment and treatment plan for VEOS/EOS patients.

scholarly journals Perinatal Exposure to Environmental Endocrine Disruptors in the Emergence of Neurodevelopmental Psychiatric Diseases: A Systematic Review

2019 ◽  
Vol 16 (8) ◽  
pp. 1318 ◽  
Author(s):  
Fabrice Rivollier ◽  
Marie-Odile Krebs ◽  
Oussama Kebir
Keyword(s):  
Systematic Review ◽  
Psychiatric Disorders ◽  
Endocrine Disruptors ◽  
Neurodevelopmental Disorders ◽  
Endocrine Disruptor ◽  
Communication Disorders ◽  
Autism Spectrum ◽  
Global Developmental Delay ◽  
Perinatal Exposure ◽  
Developmental Abnormalities

Background: Exposure to endocrine disruptors is on the rise, with new compounds regularly incriminated. In animals and humans, this exposure during critical developmental windows has been associated with various developmental abnormalities, including the emergence of psychiatric disorders. We aimed to review the association between perinatal endocrine disruptor exposure and neurodevelopmental disorders in humans, focusing on cognitive and psychiatric disorders. Methods: We performed a systematic review with key words referring to the fields of neurodevelopment and endocrine disruptors. We reviewed 896 titles, choosing studies on the basis of titles and abstracts. We searched through the methodology sections to find perinatal exposure and neurodevelopmental disorders, following the categories indicated in the Diagnostic and Statistic Manual of Mental Disorders (5th edition). References in some studies brought us to a total of 47 studies included here. Results: Convergent studies report an association between exposure to endocrine disruptors and autism spectrum disorder, attention-deficit hyperactivity disorder, global developmental delay, intellectual disability, communication disorders and unspecified neurodevelopmental disorders. Conclusion: Sufficient data exist to report that exposure to some endocrine disruptors is a risk factor for the emergence of neurodevelopmental disorders. Studying endocrine disruptor exposure in humans is still associated with some limits that are difficult to overcome.

scholarly journals Developing a Capacity for Communication in Preschoolers with Autistic Spectrum Disorders in a Face-to-Face Group Communicative Play

2021 ◽  
Vol 10 (1) ◽  
pp. 15-35
Author(s):  
N.S. Grashchenkova ◽  
M.M. Libling
Keyword(s):  
Rating Scale ◽  
Communication Disorders ◽  
Autism Spectrum ◽  
International Classification Of Functioning ◽  
Control Group ◽  
Full Data ◽  
Face To Face ◽  
The Face ◽  
Communication Ability ◽  
Spectrum Disorders

The article represents research findings covering the opportunities in communication ability development in preschoolers with Autism Spectrum Disorders (ASD) provided through the “face-to-face” group communicative play original methodology. The article presents a system, stages, and outcomes of play sessions and its theory based on necessity to compensate early stages of communication ontogenesis that autistic children have not acquired in full. Data obtained in two groups — experimental (preschoolers with ASD, participating in communicative play program) and control (preschoolers with ASD that did not participate in the program), in the course of one academic year is compared. Total number of experimental groups participants was 60 children with ASD, aged 4–6. It's been detected that children in the experimental group showed significant reduction of communication disorders, when compared to children in the control group (assessment was based on International Classification of Functioning, Disability and Health: children and youth version, Activity and Participation chapter domains), as well as significant reduction of autistic manifestations in general (based on the results of the Childhood Autism Rating Scale). The noted correlation between decreased communication problems and reduction of general autistic disorder manifestations provides us with the grounds to claim a priority role of special “face-to-face” play sessions for communication abilities development in preschoolers with ASD.

Aging and Autism

2012 ◽  
Vol 17 (2) ◽  
pp. 69-75 ◽  
Author(s):  
Pamela A. Smith
Keyword(s):  
Health Care ◽  
Autism Spectrum Disorders ◽  
Patient Group ◽  
Older Patients ◽  
Geriatric Patients ◽  
Recent Literature ◽  
Communication Disorders ◽  
Autism Spectrum ◽  
Need For Support ◽  
Spectrum Disorders

In this article, I will review the available recent literature about the aging population with autism, a patient group that researchers know little about and a group that is experiencing a growing need for support from communication disorders professionals. Speech-language pathologists working with geriatric patients should become familiar with this issue, as the numbers of older patients with autism spectrum disorders is likely to increase. Our profession and our health care system must prepare to meet the challenge these patients and residents will present as they age.

Case report: a child with cystic fibrosis and phenylketonuria

2020 ◽  
Vol 1 (2) ◽  
pp. 38-44
Author(s):  
Irina V. Vakhlova ◽  
Anastasia D. Kazachina ◽  
Olga A. Beglyanina
Keyword(s):  
Cystic Fibrosis ◽  
Case Report ◽  
Clinical Practice ◽  
Neonatal Screening ◽  
Genetic Disorders ◽  
Epileptiform Activity ◽  
Autism Spectrum ◽  
Speech Development ◽  
Inherited Disorders ◽  
Congenital Diseases

Background. In the international clinical practice there have been occasional reports of phenylketonuria (PKU) and cystic fibrosis (CF) found simultaneously in the same patient. Both PKU and CF are the inherited disorders characterized by autosomal recessive type of inheritance. Currently the combination of two or more inherited disorders in one patient is considered to be a clinical rarity.Case description. This is a clinical case of two genetic disorders, CF and PKU, combined in a 5-year old patient who had been followed up since birth. Owing to implementation of neonatal screening for inherited and congenital diseases into clinical practice, during the first month of life the infant was diagnosed with CF (diagnostically significant elevation of immunoreactive trypsin [IRT] at the initial [163.2 ng/mL] and repeat testing on day 21 of life [138.7 ng/mL]) and PKU (phenylalanine [PA] level 15.9 mg/dL). Both disorders have been confirmed by genetic tests, i.e., homozygous DelF508 mutation was found in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and P281L mutation in the phenylalanine hydroxylase (PAH) gene was also present in homozygous state. Child’s parents strictly adhered to dietary and treatment recommendations. By the age of 5 years the child developed symptoms of neurological disorder and disorder of the respiratory system, cognitive impairment and delay in speech development, subclinical epileptiform activity with high risk of epilepsy, and chronic inflammation of the respiratory tract.Conclusion. This case report demonstrates the important role of neonatal screening in early diagnosis and timely start of therapy, and underscores the importance of continuous medication in such genetic disorders as CF and PKU. On the whole, such approach brings about a relative preservation of functioning of the most affected organs and systems. By the age of 5 years the child does not form bronchiectases, shows no signs of chronic hypoxia, nutritional deficiency or pronounced neurologic deficit, and is at low risk for the development of autism spectrum disorder. At the same time, the larger scale and longer-term observations are required in order to make the unequivocal conclusions about the prognosis of these diseases under conditions of modern-day medical follow-up.

Developmental milestones in early childhood and genetic liability to neurodevelopmental disorders

2020 ◽  
Author(s):  
Laurie John Hannigan ◽  
Ragna Bugge Askeland ◽  
Helga Ask ◽  
Martin Tesli ◽  
Elizabeth Corfield ◽  
...  
Keyword(s):  
Language Development ◽  
Motor Development ◽  
Neurodevelopmental Disorders ◽  
Autism Spectrum ◽  
Probit Regression ◽  
Developmental Milestones ◽  
Genetic Liability ◽  
Polygenic Scores ◽  
Walking Age ◽  
Children First

BackgroundEarly developmental milestones, such as the age at first walking or talking, are associated with later diagnoses of neurodevelopmental disorders, but the relationship to genetic risk for neurodevelopmental disorders are unknown. Here, we investigate associations between genetic liability to autism spectrum disorder (autism), attention deficit hyperactivity disorder (ADHD), and schizophrenia and attainment of early-life language and motor development milestones.MethodsWe use data from a genotyped sub-set (N = 15 205) of children in the Norwegian Mother, Father and Child Cohort Study (MoBa). In this sample, we calculate polygenic scores for autism; ADHD and schizophrenia and predict maternal reports of children’s age at first walking and talking, motor delays at 18 months, language delays at 3 years, and a generalized measure of concerns about development. We use linear and probit regression models in a multi-group framework to test for sex differences.ResultsADHD polygenic scores predicted earlier walking age in both males and females (β=-0.037, pFDR=0.001), and earlier first use of sentences (β=-0.087, pFDR=0.032) but delayed language development at 3 years in females only (β=0.194, pFDR=0.001). Additionally, we found evidence that autism polygenic scores were associated with later walking (β=0.027, pFDR=0.024) and motor delays at 18 months (β = 0.065, pFDR=0.028). Schizophrenia polygenic scores were associated with a measure of general concerns about development at 3 years in females only (β=0.132, pFDR=0.024).ConclusionsGenetic liabilities for neurodevelopmental disorders show some specific associations with measures of early motor and language development in the general population, including the age at which children first walk and talk. Associations are generally small and occasionally in unexpected directions. Sex differences are evident in some instances, but clear patterns across different polygenic scores and outcomes are hard to discern. These findings suggest that genetic susceptibility for neurodevelopmental disorders is manifested in the timing of developmental milestones in infancy.

scholarly journals Developmental trajectories of autistic social traits in the general population

2021 ◽  
pp. 1-9
Author(s):  
Richard Pender ◽  
Pasco Fearon ◽  
Beate St Pourcain ◽  
Jon Heron ◽  
Will Mandy
Keyword(s):  
General Population ◽  
Full Range ◽  
Population Sample ◽  
Autistic Traits ◽  
Communication Disorders ◽  
Autism Spectrum ◽  
Growth Mixture Modelling ◽  
Autistic People ◽  
Social Difficulties ◽  
Autism Trait

Abstract Background Autistic people show diverse trajectories of autistic traits over time, a phenomenon labelled ‘chronogeneity’. For example, some show a decrease in symptoms, whilst others experience an intensification of difficulties. Autism spectrum disorder (ASD) is a dimensional condition, representing one end of a trait continuum that extends throughout the population. To date, no studies have investigated chronogeneity across the full range of autistic traits. We investigated the nature and clinical significance of autism trait chronogeneity in a large, general population sample. Methods Autistic social/communication traits (ASTs) were measured in the Avon Longitudinal Study of Parents and Children using the Social and Communication Disorders Checklist (SCDC) at ages 7, 10, 13 and 16 (N = 9744). We used Growth Mixture Modelling (GMM) to identify groups defined by their AST trajectories. Measures of ASD diagnosis, sex, IQ and mental health (internalising and externalising) were used to investigate external validity of the derived trajectory groups. Results The selected GMM model identified four AST trajectory groups: (i) Persistent High (2.3% of sample), (ii) Persistent Low (83.5%), (iii) Increasing (7.3%) and (iv) Decreasing (6.9%) trajectories. The Increasing group, in which females were a slight majority (53.2%), showed dramatic increases in SCDC scores during adolescence, accompanied by escalating internalising and externalising difficulties. Two-thirds (63.6%) of the Decreasing group were male. Conclusions Clinicians should note that for some young people autism-trait-like social difficulties first emerge during adolescence accompanied by problems with mood, anxiety, conduct and attention. A converse, majority-male group shows decreasing social difficulties during adolescence.

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