Physical Activity and Fitness in Children with Developmental Disorder

Introduction: Developmental coordination disorder (DCD) is a prevalent condition characterized by poor motor proficiency that interferes with a child‟s activities of daily living. Children with DCD often experience compromised health-related fitness components such as cardiorespiratory fitness (CRF). Purpose: To better understand the physical activity and fitness characteristics of children with probable DCD (pDCD), with a particular focus on CRF. Specifically: (1) to present a synopsis of current literature; (2) to determine the longitudinal trajectories of CRF; (3) to compare the submaximal CRF of children with and without pDCD. Methods: A comprehensive, systematic literature review was conducted of the recent available data on fitness and physical activity and pDCD (Chapter 2). This review provided the background for the other two studies included in this thesis. In Chapter 3, a prospective cohort design was used to assess how CRF in children with pDCD changes over time (56 months) relative to a group of typically developing controls. Using a nested-case control design, 63 subjects with pDCD and 63 matched controls from the larger sample were recruited to participate in the lab-based component of the study (Chapter 4). In this investigation CRF was examined using the oxygen cost of work (VO2) during an incremental test on a cycle ergometer. Results: The literature review showed that fitness parameters, including CRF and physical activity levels, were consistently reduced in children with pDCD. Chapter 3 demonstrated that the difference in CRF between children with pDCD and typically developing children is substantial, and that it tends to increase over time. Results from VO2 assessments showed that children with pDCD utilized more oxygen to sustain the same submaximal workloads compared to typically developing children. Conclusions: Findings from this thesis have made several important contributions to our understanding of children with pDCD. Since differences in CRF between children with and without pDCD tend to worsen over time, this adds to the argument that interventions intended to improve CRF may be appropriate for children with motor difficulties. This thesis also presented the first evidence suggesting that DCD involves higher energy expenditure, and could help explain why children with pDCD perform poorly on tasks requiring CRF.

Developmental disorder associated with increased cellular nucleotidase activity

Four unrelated patients are described with a syndrome that included developmental delay, seizures, ataxia, recurrent infections, severe language deficit, and an unusual behavioral phenotype characterized by hyperactivity, short attention span, and poor social interaction. These manifestations appeared within the first few years of life. Each patient displayed abnormalities on EEG. No unusual metabolites were found in plasma or urine, and metabolic testing was normal except for persistent hypouricosuria. Investigation of purine and pyrimidine metabolism in cultured fibroblasts derived from these patients showed normal incorporation of purine bases into nucleotides but decreased incorporation of uridine. De novo synthesis of purines and cellular phosphoribosyl pyrophosphate content also were moderately decreased. The distribution of incorporated purines and pyrimidines did not reveal a pattern suggestive of a deficient enzyme activity. Assay of individual enzymes in fibroblast lysates showed no deficiencies. However, the activity of cytosolic 5′-nucleotidase was elevated 6- to 10-fold. Based on the possibility that the observed increased catabolic activity and decreased pyrimidine salvage might be causing a deficiency of pyrimidine nucleotides, the patients were treated with oral pyrimidine nucleoside or nucleotide compounds. All patients showed remarkable improvement in speech and behavior as well as decreased seizure activity and frequency of infections. A double-blind placebo trial was undertaken to ascertain the efficacy of this supplementation regimen. Upon replacement of the supplements with placebo, all patients showed rapid regression to their pretreatment states. These observations suggest that increased nucleotide catabolism is related to the symptoms of these patients, and that the effects of this increased catabolism are reversed by administration of uridine.

Childhood auditory processing disorder as a developmental disorder:the case for a multi-professional approach to diagnosis and management

Auditory processing disorder (APD) is diagnosed when a patient presents with listening difficulties which can not be explained by a peripheral hearing impairment or higher-order cognitive or language problems. This review explores the association between auditory processing disorder (APD) and other specific developmental disorders such as dyslexia and attention-deficit hyperactivity disorder. The diagnosis and aetiology of APD are similar to those of other developmental disorders and it is well established that APD often co-occurs with impairments of language, literacy, and attention. The genetic and neurological causes of APD are poorly understood, but developmental and behavioural genetic research with other disorders suggests that clinicians should expect APD to co-occur with other symptoms frequently. The clinical implications of co-occurring symptoms of other developmental disorders are considered and the review concludes that a multi-professional approach to the diagnosis and management of APD, involving speech and language therapy and psychology as well as audiology, is essential to ensure that children have access to the most appropriate range of support and interventions.

Left ventricular structure in children with developmental coordination disorder

Developmental coordination disorder (p-DCD) is a neuro-developmental disorder featuring impairment in developing motor coordination. This study examined left ventricular mass (LVM) in children with p-DCD (n=63) and controls (n=63). LVM was measured using echocardiography. Body composition was determined using BOD POD and peak oxygen uptake (peak V02) was measured by a progressive exercise test. Height, weight and blood pressure were also measured. LVM was not significantly elevated in p-DCD compared to controls. Peak V02 was lower and SBP, BMI, HR, and BF(%) were significantly higher in p-DCD. They also demonstrated elevated stroke volume (SV), cardiac output (CO), end-diastolic volume, and ventricular diameter in diastole. In regression analyses, p-DCD was a significant predictor of SV and CO after accounting for height, FFM, V02FFM, and sex. These differences in children with p-DCD indicate obesity related changes in the left ventricle and may represent early stages of developing hypertrophy of the left ventricle.

Evaluation of Restorative Dentistry Specialty Registrars’ Clinical Experience of Developmental Disorders: A Survey

Background

Specialty Registrars in Restorative Dentistry (StRs) should be competent in the independent restorative management of patients with developmental disorders including hypodontia and cleft lip/palate upon completion of their specialist training.1 Knowledge and management may be assessed via the Intercollegiate Specialty Fellowship Examination (ISFE) in Restorative Dentistry.2

Objective

The aim of this study was to collate and compare data on the training and experience of StRs in the management of patients with developmental disorders across different training units within the British Isles.

Methods

Questionnaires were distributed to all StRs attending the Annual General Meeting of the Specialty Registrars in Restorative Dentistry Group, Belfast, in October 2015. Participants were asked to rate their confidence and experience of assessing and planning treatment for patients with developmental disorders, construction of appropriate prostheses, and provision of dental implants. Respondents were also asked to record clinical supervision and didactic teaching at their unit, and to rate their confidence of passing a future ISFE station assessing knowledge of developmental disorders.

Results

Responses were obtained from 32 StRs (n=32) training within all five countries of the British Isles. The majority of respondents were based in England (72%) with three in Wales, and two in each of Scotland, Northern Ireland, and the Republic of Ireland. Approximately one third of respondents (34%) were in the final years of training (years 4-6). Almost half of the StRs reported that they were not confident of independently assessing (44%) new patients with a developmental disorder, with larger numbers (72%) indicating a lack of confidence in treatment planning. Six respondents rated their experience of treating obturator patients as ‘poor’ or ‘very poor’. The majority (56%) rated their experience of implant provision in these cases as ‘good’ or ‘excellent’ with three-quarters (75%) rating clinical supervision at their unit as ‘good’ or ‘excellent’. Less than half (41%) rated the didactic teaching at their unit as ‘good’ or ‘excellent’, and only 8 StRs indicated that they were confident of passing an ISFE station focused on developmental disorders.

Conclusion

Experience and training regarding patients with developmental disorders is inconsistent for StRs across the British Isles with a number of trainees reporting a lack of clinical exposure.

Molecular and Cytogenetic Analyses on Brazilian Youths with Pervasive Developmental Disorders

The Pervasive Developmental Disorders (PDDs) constitute a group of behavioral and neurobiological impairment conditions whose main features are delayed communicative and cognitive development. Genetic factors are reportedly associated with PDDs and particular genetic abnormalities are frequently found in specific diagnostic subgroups such as the autism spectrum disorders. This study evaluated cytogenetic and molecular parameters in 30 youths with autism or other PDDs. The fragile X syndrome was the most common genetic abnormality detected, presented by 1 patient with autism and 1 patient with PPD not-otherwise specified (PPD-NOS). One girl with PDD-NOS was found to have tetrasomy for the 15q11-q13 region, and one patient with autism exhibited in 2/100 metaphases an inv(7)(p15q36), thus suggesting a mosaicism 46,XX/46,XX,inv(7)(p15q36) or representing a coincidental finding. The high frequency of chromosomopathies support the hypothesis that PDDs may develop as a consequence to chromosomal abnormalities and justify the cytogenetic and molecular assessment in all patients with PDDs for establishment of diagnosis.

Growth and developmental outcomes of the extremely preterm infant

Objetive: To provide information for pediatricians and neonatologists to create realistic outcome expectations and thus help plan their actions. Sources of data: Searches were made of the Cochrane Library, MEDLINE, and Lilacs databases. Summary of the findings: The assessment of growth and development over the first 2-3 years must adjust chronological age with respect of the degree of prematurity. There is special concern regarding the prognoses of small for gestational age preterm infants, and for those with bronchopulmonary dysplasia. Attention must be directed towards improving the nutrition of extremely low birth weight infants during their first years of life; these infants have high prevalence levels of failure to catch-up on growth, diseases and rehospitalizations during their first 2 years. They are frequently underweight and shorter than expected during early childhood, but delayed catch-up growth may occur between 8 and 14 years. Extremely low birth weight infants are at increased risk of neurological abnormalities and developmental delays during their first years of life. Educational, psychological, and behavioral problems are frequent during school years. Teenage and adult outcomes show that although some performance differences persist, social integration is not impaired. Conclusions: The growth and neurodevelopment of all ELBW infants must be carefully monitored after discharge, to ensure that children and their families receive adequate support and intervention to optimize prognoses. Copyright © 2005 by Sociedade Brasileira de Pediatria.

Impaired balance in developmental dyslexia? A meta-analysis of the contending evidence

Background: Developmental dyslexia is typically defined by deficits in phonological skills, but it is also associated with anomalous performance on measures of balance. Although balance assessments are included in several screening batteries for dyslexia, the association between impairments in literacy and deficits in postural stability could be due to the high co-occurrence of dyslexia with other developmental disorders in which impairments of motor behaviour are also prevalent. Methods: We identified 17 published studies that compared balance function between dyslexia and control samples and obtained effect-sizes for each. Contrast and association analyses were used to quantify the influence of hypothesised moderator variables on differences in effects across studies. Results: The mean effect-size of the balance deficit in dyslexia was .64 (95% CI = .44-.78) with heterogeneous findings across the population of studies. Probable co-occurrence of other developmental disorders and variability in intelligence scores in the dyslexia samples were the strongest moderator variables of effect-size. Conclusions: Balance deficits are associated with dyslexia, but these effects are apparently more strongly related to third variables other than to reading ability. Deficits of balance may indicate increased risk of developmental disorder, but are unlikely to be uniquely associated with dyslexia.

Diagnosing autism spectrum disorder:who will get a DSM-5 diagnosis?

Background Introduction of proposed criteria for DSM-5 Autism Spectrum Disorder (ASD) has raised concerns that some individuals currently meeting diagnostic criteria for Pervasive Developmental Disorder (PDD; DSM-IV-TR/ICD-10) will not qualify for a diagnosis under the proposed changes. To date, reports of sensitivity and specificity of the new criteria have been inconsistent across studies. No study has yet considered how changes at the 'sub domain' level might affect overall sensitivity and specificity, and few have included individuals of different ages and ability levels. Methods A set of DSM-5 ASD algorithms were developed using items from the Diagnostic Interview for Social and Communication Disorders (DISCO). The number of items required for each DSM-5 subdomain was defined either according to criteria specified by DSM-5 (Initial Algorithm), a statistical approach (Youden J Algorithm), or to minimise the number of false positives while maximising sensitivity (Modified Algorithm). The algorithms were designed, tested and compared in two independent samples (Sample 1, N = 82; Sample 2, N = 115), while sensitivity was assessed across age and ability levels in an additional dataset of individuals with an ICD-10 PDD diagnosis (Sample 3, N = 190). Results Sensitivity was highest in the Initial Algorithm, which had the poorest specificity. Although Youden J had excellent specificity, sensitivity was significantly lower than in the Modified Algorithm, which had both good sensitivity and specificity. Relaxing the domain A rules improved sensitivity of the Youden J Algorithm, but it remained less sensitive than the Modified Algorithm. Moreover, this was the only algorithm with variable sensitivity across age. All versions of the algorithm performed well across ability level. Conclusions This study demonstrates that good levels of both sensitivity and specificity can be achieved for a diagnostic algorithm adhering to the DSM-5 criteria that is suitable across age and ability level. © 2013 The Authors. Journal of Child Psychology and Psychiatry © 2013 Association for Child and Adolescent Mental Health.

Identification of the Meckel syndrome gene (MKS1) exposes a novel ciliopathy

Meckel syndrome (MKS, MIM 249000) is an autosomal recessive developmental disorder causing death in utero or shortly after birth. The hallmarks of the disease are cystic kidney dysplasia and fibrotic changes of the liver, occipital encephalocele with or without hydrocephalus and polydactyly. Other anomalies frequently seen in the patients are incomplete development of the male genitalia, club feet and cleft lip or palate. The clinical picture has been well characterized in the literature while the molecular pathology underlying the disease has remained unclear until now. In this study we identified the first MKS gene by utilizing the disease haplotypes in Finnish MKS families linked to the MKS1 locus on chromosome 17q23 (MKS1) locus. Subsequently, the genetic heterogeneity of MKS was established in the Finnish families. Mutations in at least four different genes can cause MKS. These genes have been mapped to the chromosomes 17q23 (MKS1), 11q13 (MKS2), 8q22 (MKS3) and 9q33 (MKS4). Two of these genes have been identified so far: The MKS1 gene (this work) and the MKS3 gene. The identified MKS1 gene was initially a novel human gene which is conserved among species. We found three different MKS mutations, one of them being the Finnish founder mutation. The information available from MKS1 orthologs in other species convinced us that the MKS1 gene is required for normal ciliogenesis. Defects of the cilial system in other human diseases and model organisms actually cause phenotypic features similar to those seen in MKS patients. The MKS3 (TMEM67) gene encodes a transmembrane protein and the gene maps to the syntenic Wpk locus in the rat, which is a model with polycystic kidney disease, agenesis of the corpus callosum and hydrocephalus. The available information from these two genes suggest that MKS1 would encode a structural component of the centriole required for normal ciliary functions, and MKS3 would be a transmembrane component most likely required for normal ciliary sensory signaling. The MKS4 locus was localized to chromosme 9q32-33 in this study by using an inbred Finnish family with two affected and two healthy children. This fourth locus contains TRIM32 gene, which is associated to another well characterized human ciliopathy, Bardet Biedl syndrome (BBS). Future studies should identify the MKS4 gene on chromosome 9q and confirm if there are more than two genes causing MKS Finnish families. The research on critical signaling pathways in organogenesis have shown that both Wnt and Hedgehog pathways are dependent on functional cilia. The MKS gene products will serve as excellent model molecules for more detailed studies of the functional role of cilia in organogenesis in more detail.

Characterization of the TRIM37 gene and mutations underlying mulibrey nanism

Mulibrey nanism is a hereditary developmental disorder, characterized by prenatal onset growth failure without postnatal catch-up growth, distinctive craniofacial features, progressive cardiopathy and failure of sexual maturation. In addition, the patients develop insulin resistance syndrome and type 2 diabetes and they have an increased risk of developing tumors. The TRIM37 gene that underlies mulibrey nanism encodes for a member of the tripartite motif (TRIM) protein family. The physiological function of TRIM37 and the pathogenetic mechanisms leading from TRIM37 dysfunction to the mulibrey nanism phenotype are unknown. However, TRIM37 localizes at least partially to peroxisomes, and possesses ubiquitin E3-ligase activity. Thus, it may mediate ubiquitin dependent protein degradation, suggesting that accumulation of yet unknown substrate proteins may underlie the disease pathogenesis. In this study, the TRIM37 gene was characterized in detail. A transcription initiation window, with several separate transcription start sites, was identified and the putative promoter region immediately upstream from the transcription initiation window was shown to possess basal promoter activity. Further, several alternative splice variants of the gene were identified, including a highly expressed testis specific variant, encoding for an identical protein product with the main transcript. Expression of TRIM37 mRNA was detected in several different tissues, with highest expression seen in testis and in brain, when the expression patterns of the two major transcripts in different human tissues were studied by quantitative real-time PCR. Several mulibrey nanism patients were studied and thirteen novel mutations in TRIM37 were found, including three mutations (p.Gly322Val, p.Cys109Ser, p.Glu271_Ser287), that are likely to express mutant TRIM37 proteins. These mutations were further shown to alter the subcellular localization of the mutant proteins. Most of the mulibrey nanism associated mutations however, lead to premature termination codons and degradation of mRNA. All the TRIM37 mutations identified to date predict loss-of-function alleles, and thus no phenotype-genotype correlation is seen among the patients. In order to understand the pathogenetic mechanisms underlying mulibrey nanism, an animal model for the disorder is needed. For the development of a Trim37 knock-out mouse, the mouse Trim37 gene was characterized. Alternative splice variants, were identified, including a testis specific variant predicting a longer protein product. Further, a strictly tissue and cell-specific pattern of Trim37 expression was observed in developing and adult mouse tissues, when studied by immunohistochemical methods. This distribution of Trim37 expression in mouse tissues is in agreement with the clinical findings in human mulibrey nanism patients. This thesis work gives new tools for the diagnostics of mulibrey nanism as well as for studying the molecular pathogenesis behind this interesting disorder.

A genomewide screen for autism susceptibility loci

We report the analysis of 335 microsatellite markers genotyped in 110 multiplex families with autism. All families include at least two "affected" siblings, at least one of whom has autism; the remaining affected sibs carry diagnoses of either Asperger syndrome or pervasive developmental disorder. Affected sib-pair analysis yielded multipoint maximum LOD scores (MLS) that reach the accepted threshold for suggestive linkage on chromosomes 5, X, and 19. Nominal evidence for linkage (point-wise P<.05) was obtained on chromosomes 2, 3, 4, 8, 10, 11, 12, 15, 16, 18, and 20, and secondary loci were found on chromosomes 5 and 19. Analysis of families sharing alleles at the putative X chromosomal linked locus and one or more other putative linked loci produced an MLS of 3.56 for the DXS470-D19S174 marker combination. In an effort to increase power to detect linkage, scan statistics were used to evaluate the significance of peak LOD scores based on statistical evidence at adjacent marker loci. This analysis yielded impressive evidence for linkage to autism and autism-spectrum disorders with significant genomewide P values <.05 for markers on chromosomes 5 and 8 and with suggestive linkage evidence for a marker on chromosome 19.

Molecular genetics of Meckel syndrome : Ciliary genes are defective in MKS

Meckel syndrome (MKS, MIM 249000) is a severe developmental disorder that leads to death already in utero or shortly after birth. MKS diagnosis can be established by a careful ultrasound examination already at 11-14 weeks of gestation. The main features of MKS are occipital meningoencephalocele, cystic kidney dysplasia and fibrotic changes of the liver. In addition, polydactyly is frequently reported in the cases. The aim of the study was to characterize the molecular and functional defects in MKS. In this study we were able to identify two major MKS mutations in Finnish population, which cover over 90% of the cases. The first mutation is a 29 bp intronic deletion in the MKS1 gene (c.1483-7_35del) that is found in 70% of the families and the second is a C>T substitution in the coding region of CC2D2A (c.1762C>T), that is found in 20% of the MKS families. Both of these mutations result in abnormal splicing. The discovery of the disease genes has revealed that MKS is caused by primary cilia dysfunction. MKS1 gene has a conserved B9 domain, and it is found in the predicted ciliary proteome. CC2D2A protein is also found in the predicted ciliary proteome and it has a Ca2+ binding domain. The number of genes behind MKS has increased rapidly in the past years and to date, mutations have been identified in five genes (MKS1, TMEM67/MKS3, CEP290/MKS4, RPGRIP1L/MKS5 and CC2D2A/MKS6). Identification of the disease genes mutations has also revealed that MKS is an allelic disorder with other syndromes with overlapping phenotypes. Disorders that are caused by primary cilia dysfunction are collectively known as ciliopathies. Sequence analysis of all the known MKS genes in Finnish and non-Finnish families available to us, where the mutation was still unknown, revealed mutations in 14 out of the 30 families included in the study. When we collected all the reported mutations in MKS genes in different syndromes we could see that there was clearly a genotype-syndrome correlation between the mutations and the syndromes, since the same pair of mutations has never been reported in different syndromes. The basic molecular events behind MKS will not only give us information of this syndrome, but also significant novel information on early fetal development in general.

Genetic Mechanisms Underlying Autism Spectrum Disorders

Autism is a childhood-onset developmental disorder characterized by deficits in reciprocal social interaction, verbal and non-verbal communication, and dependence on routines and rituals. It belongs to a spectrum of disorders (autism spectrum disorders, ASDs) which share core symptoms but show considerable variation in severity. The whole spectrum affects 0.6-0.7% of children worldwide, inducing a substantial public health burden and causing suffering to the affected families. Despite having a very high heritability, ASDs have shown exceptional genetic heterogeneity, which has complicated the identification of risk variants and left the etiology largely unknown. However, recent studies suggest that rare, family-specific factors contribute significantly to the genetic basis of ASDs. In this study, we investigated the role of DISC1 (Disrupted-in-schizophrenia-1) in ASDs, and identified association with markers and haplotypes previously associated with psychiatric phenotypes. We identified four polymorphic micro-RNA target sites in the 3 UTR of DISC1, and showed that hsa-miR-559 regulates DISC1 expression in vitro in an allele-specific manner. We also analyzed an extended autism pedigree with genealogical roots in Central Finland reaching back to the 17th century. To take advantage of the beneficial characteristics of population isolates to gene mapping and reduced genetic heterogeneity observed in distantly related individuals, we performed a microsatellite-based genome-wide screen for linkage and linkage disequilibrium in this pedigree. We identified a putative autism susceptibility locus on chromosome 19p13.3 and obtained further support for previously reported loci at 1q23 and 15q11-q13. To follow-up these findings, we extended our study sample from the same sub-isolate and initiated a genome-wide analysis of homozygosity and allelic sharing using high-density SNP markers. We identified a small number of haplotypes shared by different subsets of the genealogically connected cases, along with convergent biological pathways from SNP and gene expression data, which highlighted axon guidance molecules in the pathogenesis of ASDs. In conclusion, the results obtained in this thesis show that multiple distinct genetic variants are responsible for the ASD phenotype even within single pedigrees from an isolated population. We suggest that targeted resequencing of the shared haplotypes, linkage regions, and other susceptibility loci is essential to identify the causal variants. We also report a possible micro-RNA mediated regulatory mechanism, which might partially explain the wide-range neurobiological effects of the DISC1 gene.

Kielellinen erityisvaikeus : oirekuva ja familiaalisuus potilasasiakirjojen perusteella

Goals. Specific language impairment (SLI) has a negative impact on child s speech and language development and interaction. Disorder may be associated with a wide range of comorbid problems. In clinical speech therapy it is important to see the child as a whole so that the rehabilitation can be targeted properly. The aim of this study was to describe the linguistic-cognitive and comorbid symptoms of children with SLI at the age of five, as well as to provide an overwiew of the developmental disorders in the families. The study is part of a larger research project, which will examine paths of development and quality of life of children with SLI as young adults. Methods. The data consisted of patient documents of 100 5-year old children, who were examined in Lastenlinna mainly at 1998. Majority of the subjects were boys, and children s primary diagnosis was either F80.1 or F80.2, which was most common, or both. The diagnosis and the information about the linguistic-cognitive status and comorbid symptoms were collected from reports of medical doctors and experts of other fields, as well as mentions related to familiality. Linguistic-cognitive symptoms were divided into subclasses of speech motor functions, prosessing of language, comprehension of language and use of language. Comorbid symptoms were divided into subclasses of interaction, activity and attention, emotional and behavior problems and neurologic problems. Statistical analyses were based mainly on Pearson s Chi Square test. Results and conclusions. Problems in language processing and speech motor functions were most common of the linguistic-cognitive symptoms. Most of the children had symptoms from two or three symptom classes, and it seemed that girls had more symptoms than boys. Usually children did not have any comorbid symptoms, or had them from one or three symptom classes. Of the comorbid symptoms the most prevalent ones were problems in activity and attention and neurological symptoms, which consisted mostly of motoric and visuomotoric symptoms. The most common of the comorbid diagnoses was F82, specific developmental disorder of motor function. According to literature children with SLI may have problems in mental health, but the results of this study did not confirm that. Children with diagnosis F80.2 had more linguistic-cognitive and comorbid symptoms than children with diagnosis F80.1. The cluster analyses based on all the symtoms revealed four subgroups of the subjects. Of the subjects 85 percent had a positive family history of developmental disorders, and the most prevalent problem in the families was delayed speech development. This study outlined the symptom profile of children with SLI and laid a foundation for the future longitudinal study. The results suggested that there are differences between linguistic-cognitive symptoms of boys and girls, which is important to notice especially when assessing and diagnosing children with SLI.