Developmental Learning Disabilities Research Articles

Language, reading, and math learning profiles in an epidemiological sample of school age children.

Dyscalculia, dyslexia, and specific language impairment (SLI) are relatively specific developmental learning disabilities in math, reading, and oral language, respectively, that occur in the context of average intellectual capacity and adequate environmental opportunities. Past research has been dominated by studies focused on single impairments despite the widespread recognition that overlapping and comorbid deficits are common. The present study took an epidemiological approach to study the learning profiles of a large school age sample in language, reading, and math. Both general learning profiles reflecting good or poor performance across measures and specific learning profiles involving either weak language, weak reading, weak math, or weak math and reading were observed. These latter four profiles characterized 70% of children with some evidence of a learning disability. Low scores in phonological short-term memory characterized clusters with a language-based weakness whereas low or variable phonological awareness was associated with the reading (but not language-based) weaknesses. The low math only group did not show these phonological deficits. These findings may suggest different etiologies for language-based deficits in language, reading, and math, reading-related impairments in reading and math, and isolated math disabilities.

The effects of anaesthesia on the developing brain: a summary of the clinical evidence

Introduction: There is data amassing in the literature regarding the potentially adverse effects of anaesthesia exposure on the developing human brain. The purpose of this article is to summarise current relevant data from clinical studies in this area. Methods: Articles from journals written in English were searched for using PubMed, Ovid and Medline. Keywords used included: brain (newborn, infant, child and neonate), neurodegeneration, apoptosis, toxicity, neurocognitive impairment (developmental impairment and learning disorders) and anaesthesia (intravenous, inhalational and sedation). Results: From the initial search, 23 articles were identified as potentially relevant, with publication dates spanning from 1978 to 2012. Twelve studies were deemed irrelevant to the research questions. The results of neurocognitive assessment from eight of the remaining eleven studies had showed some differences in the performances of children exposed to anaesthesia. The control population in these studies was highly variable. The age at which the subjects were exposed to anaesthesia ranged from prenatal to 4 years in the majority of studies with one including children aged up to 12 years when exposed. Discussion: Although there is clinical data suggesting a possible detrimental effect, the evidence is best considered preliminary and inconclusive at this stage. Many of the outcome measures were lacking in specificity and standardization in most cases. Parents should be counselled to not avoid necessary invasive procedures for fear of a currently ill-defined risk. However, deferral of elective procedures beyond the first few years of life should be contemplated.

The effects of anaesthesia on the developing brain: a summary of the clinical evidence

There is data amassing in the literature regarding the potentially adverse effects of anaesthesia exposure on the developing human brain. The purpose of this article is to summarise current relevant data from clinical studies in this area. Articles from journals written in English were searched for using PubMed, Ovid and Medline. Keywords used included: brain (newborn, infant, child and neonate), neurodegeneration, apoptosis, toxicity, neurocognitive impairment (developmental impairment and learning disorders) and anaesthesia (intravenous, inhalational and sedation). From the initial search, 23 articles were identified as potentially relevant, with publication dates spanning from 1978 to 2012. Twelve studies were deemed irrelevant to the research questions. The results of neurocognitive assessment from eight of the remaining eleven studies had showed some differences in the performances of children exposed to anaesthesia. The control population in these studies was highly variable. The age at which the subjects were exposed to anaesthesia ranged from prenatal to 4 years in the majority of studies with one including children aged up to 12 years when exposed. Although there is clinical data suggesting a possible detrimental effect, the evidence is best considered preliminary and inconclusive at this stage. Many of the outcome measures were lacking in specificity and standardization in most cases. Parents should be counselled to not avoid necessary invasive procedures for fear of a currently ill-defined risk. However, deferral of elective procedures beyond the first few years of life should be contemplated.

Pharmacological treatments prescribed to people with autism spectrum disorder (ASD) in primary health care

RationaleAutism spectrum disorders (ASDs) affect 1 % of children, having significant impact on health and social outcomes. Psychotropic medication use by individuals with ASD in the USA increased over time, and polypharmacy occurred in >50 % of those prescribed. In the UK, no psychotropic drugs are approved in ASDs, and little is known about patterns of pharmacological treatment in the ASD population and associated co-morbidities.MethodsWe used The Health Improvement Network, a nationally representative primary care database, to assess the prevalence of ASD diagnoses, psychotropic drug prescribing and neuropsychiatric co-morbidities of 0–24 year olds between 1992 and 2008.ResultsASD prevalence increased 65-fold from 0.01 % (1992) to 0.50 % (2008). Psychotropic drugs were prescribed to 29 % (1,619/5,651) of the ASD cohort; the most prescribed drugs were sleep medication (9.7 % of prescribed patients), psychostimulants (7.9 %) and antipsychotics (7.3 %). More patients were given psychostimulants and sleep medications over time from 1.5–6.3 % and 2.2–5.9 % respectively. Thirty-seven per cent of the cohort had ≥1 record of a neuropsychiatric co-morbidity, the most common being developmental difficulties and learning disabilities (12.6 %), behavioural, conduct and personality disorders (11.1 %) and attention deficit hyperactivity disorder (7.5 %).ConclusionsBritish physicians are more conservative in prescribing practice than American colleagues. However, use of psychostimulants and antipsychotics is much higher in those with ASD than in the general population. Polypharmacy was seen in 34 % of prescribed patients in 2008. Additional studies examining use, efficacy, and long-term safety of antipsychotics and psychostimulants in autistic individuals are warranted.

2260 AN INSTITUTIONAL REVIEW OF ANESTHETIC TIMES FOR URINARY STONES IN PREGNANT WOMEN

INTRODUCTION AND OBJECTIVES: Management options for urolithiasis during pregnancy include trial of passage, temporizing ureteral stent or nephrostomy tube, and definitive treatment with ureteroscopy. Prior research suggests children can suffer adverse long term effects from exposure to medications used for general anesthesia. Specifically, anesthesia exposure greater than two hours or greater than two separate anesthesia exposures prior to the age of four years has been associated with the development of learning disabilities. The goal of this study is to compare the potential anesthesia risk to the fetus when temporizing stents are placed compared to definitive management with ureteroscopy. METHODS: We retrospectively reviewed the records of patients diagnosed with urolithiasis during pregnancy who underwent surgical intervention from 1997 to 2012. Patients were evaluated for a confirmed stone event, defined as a stone visualized on imaging or at surgery, along with management strategy including duration and frequency of anesthetic events. RESULTS: We identified 26 women with urolithiasis during pregnancy who met our inclusion criteria, of which 15 (58%) were managed with stents and 11 (42%) underwent ureteroscopic intervention. In the stent group 6 (40%) required multiple stent exchanges for a mean of 1.47 (range 1-3) anesthetic events and median anesthetic time of 70 minutes (range 29-208 min). Seven (47%) of the women managed with ureteral stent exchange were induced prior to term due to inability to tolerate the stent. Overall the ureteroscopy group had a mean of 1.18 anesthetic events (range 1-2) and 80 minutes (range 37-126 min) of anesthetic exposure. Two (18%) required two procedures either for infection or narrow ureter. None were induced early for pain. Comparing the two groups, there was no significant difference in number of events (p 0.208) or total anesthetic time (p 0.503). CONCLUSIONS: Ureteroscopic intervention appears safe and effective in treating acute stone events with equivalent if not less anesthetic exposure to the fetus compared to temporizing ureteral stents. Furthermore, early induction of labor due to pain is not a concern with ureteroscopy, as it has been shown to be with ureteral stenting. Our study provides further support to the role of definitive stone management instead of temporizing measures during pregnancy.

Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants

Obesity is a major threat to public health worldwide, and there is now mounting evidence favoring a role for the central nervous system (CNS) in weight control. A causal relationship has been recognized in both monogenic (e.g., BDNF, TRKB, and SIM1 deficiencies) and syndromic forms of obesity [e.g., Prader-Willi syndrome (PWS)]. Syndromic obesity arising from chromosomal abnormalities, that typically also affect learning and development, are often associated with congenital malformations and behavioral characteristics. We report on nine unrelated patients with a diagnosis of learning disability and/or developmental delay (DD) in addition to obesity that were found to have copy number variants (CNVs) by single nucleotide polymorphism array-based analysis. Each patient also had a distinct and complex phenotype, and most had hypotonia and other neuroendocrine issues, such as hyperphagia and hypogonadism. Molecular and clinical characterization of these patients enabled us to determine with confidence that the CNVs we observed were pathogenic or likely to be pathogenic. Overall, the CNVs reported here encompassed a candidate gene or region (e.g., SIM1) that has been reported in patients associating obesity and DD and/or intellectual disability (ID) and novel candidate genes and regions.

5p13 microduplication syndrome: A new case and better clinical definition of the syndrome

Chromosome 5p13 duplication syndrome (OMIM #613174), a contiguous gene syndrome involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM 608667), has been described in rare patients with developmental delay and learning disability, behavioral problems and peculiar facial dysmorphisms. 5p13 duplications described so far present with variable sizes, from 0.25 to 13.6 Mb, and contain a variable number of genes. Here we report another patient with 5p13 duplication syndrome including NIPBL gene only. Proband's phenotype overlapped that reported in patients with 5p13 microduplication syndrome and especially that of subjects with smaller duplications. Moreover, we better define genotype–phenotype relationship associated with this duplication and confirmed that NIPBL was likely the major dosage sensitive gene for the 5p13 microduplication phenotype.

Heart defects and other features of the 22q11 distal deletion syndrome

22q11.2 distal deletion syndrome is distinct from the common 22q11.2 deletion syndrome and caused by microdeletions localized adjacent to the common 22q11 deletion at its telomeric end. Most distal deletions of 22q11 extend from LCR22-4 to an LCR in the range LCR22-5 to LCR22-8. We present three patients with 22q11 distal deletions, of whom two have complex congenital heart malformation, thus broadening the phenotypic spectrum. We compare cardiac malformations reported in 22q11 distal deletion to those reported in the common 22q11 deletion syndrome. We also review the literature for patients with 22q11 distal deletions, and discuss the possible roles of haploinsufficiency of the MAPK1 gene. We find the most frequent features in 22q11 distal deletion to be developmental delay or learning disability, short stature, microcephalus, premature birth with low birth weight, and congenital heart malformation ranging from minor anomalies to complex malformations. Behavioral problems are also seen in a substantial portion of patients. The following dysmorphic features are relatively common: smooth philtrum, abnormally structured ears, cleft palate/bifid uvula, micro-/retrognathia, upslanting palpebral fissures, thin upper lip, and ear tags. Very distal deletions including region LCR22-6 to LCR22-7 encompassing the SMARCB1-gene are associated with an increased risk of malignant rhabdoid tumors.

Judge Tells Washington Insurer to Cover Habilitation

You have accessThe ASHA LeaderOn the Pulse1 Oct 2012Judge Tells Washington Insurer to Cover Habilitation Carol Polovoy Carol Polovoy Google Scholar More articles by this author https://doi.org/10.1044/leader.OTP.17122012.8 SectionsAbout ToolsAdd to favorites ShareFacebookTwitterLinked In A federal judge has ruled that a health plan in the state of Washington must remove age restrictions on habilitation services for children with developmental disabilities. The case,Z.D. v. Group Health Cooperative, was brought by the parents of a 12-year-old girl diagnosed with “moderate-severe receptive language disorder” and “other specific developmental learning disabilities.” The child received speech-language treatment from the Group Health Cooperative until she was 7, when the plan refused to provide further treatment because of its policy limiting neurodevelopmental treatments to beneficiaries age 6 and younger. A U.S. District Court judge found that treatments for developmental disabilities are covered under the state’s Mental Health Parity Act, which forbids treatment limitations for mental health services if those limitations are not generally imposed on medical and surgical services. The class action against Group Health is one of six brought against insurers in the state over the exclusion of neurodevelopmental and behavioral therapies. These types of treatments are “habilitative”—they help a person learn, keep, or improve skills and functional abilities that they may not be developing normally—rather than “rehabilitative,” which focus on regaining skills and abilities lost to injury or illness. The use of exclusionary clauses to eliminate coverage for specialty services to treat developmental disabilities is a common practice among Washington insurers, according to the plaintiff’s attorneys. Lawsuits are pending against Premera Blue Cross, Regence Blue Shield, and the public employees’ coverage, the Uniform Medical Plan. A notice on the Group Health website indicates that “Given a recent federal district court ruling regarding the reach of Washington’s Mental Health Parity Act, Group Health has expanded coverage of certain therapies for children over the age of 7 with neurodevelopmental disabilities.” What Happens to Habilitation Services Under Health Care Reform? Habilitation services are receiving more attention as federal agencies develop regulations for the Patient Protection and Affordable Care Act. Under this health care reform legislation, certain plans—starting in 2014—must cover a set of health care service categories called “essential benefits.” Insurance policies must cover these benefits to be certified and offered in health care marketplaces. The U.S. Department of Health and Human Services has indicated that habilitation services (designed to help individuals learn, keep, or improve skills) and rehabilitation services (designed to help individuals regain skills followed injury or illness) will be included in the essential health benefits, but it has not clearly defined the scope of those services (The ASHA Leader,March 13). In addition, the federal information was issued as guidance, not as regulation, meaning that states may interpret how to include habilitation in health insurance coverage. The guidance defined the 10 service categories that must be included in essential health benefits, and included habilitation and rehabilitation services and devices in one category that previously was listed only as rehabilitation services. ASHA views this guidance as a welcome start in helping states develop health insurance benefit packages, and has suggested further clarification: Define habilitation, using the definition from the National Association of Insurance Commissioners workgroup, and contrast it with rehabilitation. Recognize that habilitation services are similar in type and scope to rehabilitation services, though the cause of the difficulty, condition, and exact course of treatment may differ. Mandate that habilitation services be offered at least on parity with rehabilitation services. Define “medical necessity,” citing the ASHA medical review guidelines as a resource, when used to justify the need for requested services. Describe maintenance programs, stressing that they are time-limited based on the needs of the patient. Clarify that habilitation services may be provided to children and adults (such as adults with developmental disabilities who may need assistance acquiring skills never demonstrated at a younger age). Clarify that habilitation services may be provided in a variety of settings, and ensure that services that may be provided in schools are not excluded. Author Notes Carol Polovoy, assistant managing editor of The ASHA Leader, can be reached at [email protected]. Advertising Disclaimer | Advertise With Us Advertising Disclaimer | Advertise With Us Additional Resources FiguresSourcesRelatedDetails Volume 17Issue 12October 2012 Get Permissions Add to your Mendeley library History Published in print: Oct 1, 2012 Metrics Downloaded 42 times Topicsasha-topicsleader_do_tagleader-topicsasha-article-typesCopyright & Permissions© 2012 American Speech-Language-Hearing AssociationLoading ...

Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner

BackgroundChromosome 17q21.31 contains a common inversion polymorphism of approximately 900 kb in populations with European ancestry. Two divergent MAPT haplotypes, H1 and H2 are described with distinct linkage disequilibrium patterns across the region reflecting the inversion status at this locus. The MAPT H1 haplotype has been associated with progressive supranuclear palsy, corticobasal degeneration, Parkinson’s disease and Alzheimer’s disease, while the H2 is linked to recurrent deletion events associated with the 17q21.31 microdeletion syndrome, a disease characterized by developmental delay and learning disability.ResultsIn this study, we investigate the effect of the inversion on the expression of genes in the 17q21.31 region. We find the expression of several genes in and at the borders of the inversion to be affected; specific either to whole blood or different regions of the human brain. The H1 haplotype was found to be associated with an increased expression of LRRC37A4, PLEKH1M and MAPT. In contrast, a decreased expression of MGC57346, LRRC37A and CRHR1 was associated with H1.ConclusionsStudies thus far have focused on the expression of MAPT in the inversion region. However, our results show that the inversion status affects expression of other genes in the 17q21.31 region as well. Given the link between the inversion status and different neurological diseases, these genes may also be involved in disease pathology, possibly in a tissue-specific manner.

The Influence of Pathologies upon Sensory Perception and Sensory Coordination in Children with Developmental Dyslexia and Learning Disorders: A Unified Theory of Developmental Dyslexia.

This case is presented to explain that developmental dyslexia and related autistic spectrum disorders have solely pathological origins. There is a general consensus of opinion which supports the phonological theory. However, this largely ignores the biological basis for all aspects of the brain's development and function, and hence, for its dysfunction. A unified explanation must take into account all salient features including cognitive dysfunction, encephalograph (EEG) frequencies, neural networks, physiological systems, autonomic nervous system and the function of the cerebellum. It must explain the significance of the brain waves and neurons and their normally synchronized or coherent function. This article builds upon an earlier article by the authors, which incorporates a review and discussion of the prevailing theories or models for developmental dyslexia. It looks at the issues from a top-down ‘systems biology’ perspective. It concludes that it may be only the body's biochemistry and, in particular, the onset of pathologies that explain the phenomena which we recognize as developmental dyslexia. Pathologies experienced in the early prepubescent years influence neural development. They influence the speed and coherent transmission of data between the senses and neural centers. It is proposed that this explains the nature and occurrence of what we recognize as developmental dyslexia.

P-1431 - Treating adolescents with learning disorders in the community

The aim is the registration of the school learning disorders of adolescents who attended the Community Mental Health Centre of Byron-Kesariani during 2006–2010, and the assessment of the suggested rehabilitation means. A reasonable question is raised: do adolescents have a second chance when their learning difficulties are diagnosed late during their high school attendance? School failure in adolescence could be attributed to pre-existing developmental learning disorders, mild mental retardation or emotional problems which can pertain to temporary mental disorders inherent in adolescence or to genuine mental disorders. Learning disorder is the most frequent diagnosis given to the adolescents who attend our Centre. Statistical trials have the following results: boys present more learning problems than girls. They are more often junior high-school students than high-school students, and their mean age is lower than that of the adolescents’ general sample. Referral to the Centre is usually made by the school. The diagnosis is related to the demand. No significant difference was found between the managing means and the compliance to the suggested treatment. Early diagnosis of learning difficulties in preschool or elementary school years allows for effectiveness of therapeutic interventions. The potential recovery of learning disorders after entry in adolescence is limited, and their management proved to be inadequate. It has been shown that the main managing method has been limited to the diagnostic assessment and the issue of a certificate used as a means of receiving lenient grading in school. Psychotherapeutic and psycho-educational treatment constituted selective approach means in individual cases.

Teachers’ intuition and knowledge in detecting specific learning disabilities

The aim of the study was to investigate primary school teachers? proficiency in detecting the ability-achievement discrepancy as a landmark of possible specific developmental learning disabilities (SLD). Twenty-two teachers in five schools attempted to select, in accordance with their perception and out of a larger preliminary sample, those students whose school results revealed: (a) discrepancy between school achievement and general abilities (the group of purportedly disharmonic children, GPD) or (b) concordance between general abilities and achievement (the group of purportedly harmonic children, GPH). The children were tested by REVISK, while teachers re-assessed students? reading, writing and arithmetic performance against a simple structured questionnaire based on demands of the approved elementary school program delineated by the Ministry of Education of the Republic of Serbia. Research results indicate that more than 60% of children originally qualified to GPH have actually shown significant discrepancy between targeted scholastic skills and (normal) general intelligence. The data suggested some association between students? disparity in attainment and teachers? attribution accuracy, while the only homogenous quantitative marker of misplaced children were decreased values on some of the REVISK Verbal subscale tests. This study has shown that teachers can use their professional knowledge to enhance their capability to detect children with specific learning disabilities. In absence of criterion-referenced tests of reading, writing and mathematics, a structured approach to the projected course of skill progress might support teachers? confidence regarding likely SLD.

Developmental Disorders of Language, Learning and Cognition

Developmental Disorders of Language, Learning and Cognition

A Child With Mild X-Linked Intellectual Disability and a Microduplication at Xp22.12 Including RPS6KA3

Multiplex ligation-dependent probe amplification (MLPA) and array- comparative genomic hybridization analysis have been proven to be useful in the identification of submicroscopic copy-number imbalances in families with nonsyndromic X-linked intellectual disability (NS-XLID). Here we report the first description of a child with mild intellectual disability and a submicroscopic duplication at Xp22.12 identified by MLPA with a P106 MRX kit (MRC-Holland, Amsterdam, Netherlands) and further confirmed and characterized with a custom 244-k oligo-array, fluorescence in situ hybridization, quantitative polymerase chain reaction (qPCR), and immunoblotting. This 1.05-megabase duplication encompasses 7 genes, RPS6KA3 being the only of these genes known to be related to ID. The proband was an 8-year-old boy referred to the genetics unit for psychomotor retardation and learning disabilities. Both maternal brothers also showed learning difficulties and delayed language during childhood in a similar way to the proband. These boys also carried the duplication, as did the healthy mother and grandmother of the proband. The same duplication was also observed in the 5-year-old younger brother who presented with features of developmental delay and learning disabilities during the previous year. Increased RPS6KA3/RSK2 levels were demonstrated in the proband by qPCR and immunoblotting. To our knowledge, this is the first family identified with a submicroscopic duplication including the entire RPS6KA3/RSK2 gene, and our findings suggest that an increased dose of this gene is responsible for a mild form of NS-XLID.

Reflection of a career in paediatrics: A calling becomes a fulfilling profession

Reflection of a career in paediatrics: A calling becomes a fulfilling profession

Prevalence of children with disabilities in the child welfare system and out of home placement: An examination of administrative records

This article explores the prevalence and characteristics of children with disabilities within the child welfare system using administrative data from the State of Minnesota. This study finds that more than a fifth (22%) of children with substantiated maltreatment are labeled in administrative records as having a disability, and more than one quarter of children (27.9%) over age five. The most common type of disability among children with substantiated maltreatment was emotional disturbance, while other common disabilities included intellectual and developmental disabilities and learning disabilities. Using logistic regression, this study finds that children with substantiated maltreatment with disabilities were about two times more likely to be in out of home placement than children with substantiated maltreatment without disabilities.

Response to Gutmann et al

Sir, We are pleased that the publications have provoked open debate and thank Gutmann et al for their comments.1 We concur that the current recommendations of ophthalmology appointments for children with NF1 do not constitute screening, and should not be labelled as such. A recent audit of the NF1 OPG screening service in Manchester revealed that screening appointments were poorly attended and no OPGs were detected during annual ophthalmology screening over a 7-year, 128-episode period.2 The term ‘age appropriate screening' remains problematic on several levels. At least 40% children with NF1 have developmental delay or learning disability and have difficulty performing the tests.3 Learning disability is associated with cerebral visual impairment (CVI); CVI and amblyopia reduce vision. If there are no ‘normal' data for visual development in children with NF1, how are we to define the ‘reduced vision' that is ‘highly predictive of OPG'?1 Perhaps what we should all be working towards is ‘developmentally appropriate screening' and use the ongoing national project to collect the ‘normal' data we need, so that we may be better informed when making the next round of recommendations.

Early anesthetic exposure and long-term cognitive impairment

Several lines of evidence from clinical cohort studies and animal studies have shown that early exposure to anesthetics is a significant risk factor for later development of learning disabilities. However, the underlying molecular mechanism is unclear. Recent studies have indicated that hippocampal neurogenesis and synaptogenesis may be involved in the mechanisms by which early anesthetic exposure produces long-term cognitive impairment. It is possible that synaptic scaffolding protein postsynaptic density-95 (PSD-95) PDZ (PSD 95/Discs large/Zona occludens-1) domain-mediated protein-protein interactions are involved in the regulation of neurogenesis and synaptogenesis in the central nervous system. PDZ domain-mediated protein-protein interactions are disrupted by clinically relevant concentrations of inhaled anesthetics. It will help us understand the molecular mechanism underlying anesthetic-induced long-term cognitive dysfunction if we can demonstrate the role of synaptic PDZ interactions in early anesthetic exposure-produced long-term cognitive impairment.

Repeat anaesthesia: what are the effects?

“Early exposure to anesthesia and learning disabilities in a population-based birth cohort” was published in Anaesthesiology in March 2009. Wilder et al studied the association between anaesthesia before the age of four and the development of learning disabilities (LD), and found that, while a single anaesthetic was not associated with an increased risk of LD, receiving two or more anaesthetics was associated with a increased risk of LD (hazard ratio 1.59 for two anaesthetics, and 2.60 for ≥ three exposures). The risk for LD increased with longer cumulative duration of anaesthetic exposure.