Significant Learning Disabilities Research Articles

Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion

In this clinical report, we describe a male infant and his mother, who had similar congenital heart defects. They were both diagnosed neonatally with total anomalous pulmonary venous connection (TAPVC) in combination with other heart defects. Neither of the two had any other organ malformations or dysmorphic facial features. SNP-array identified a central 22q11.2 microdeletion in the male infant and his mother as well as in the maternal grandmother and maternal aunt. The mother and the maternal aunt additionally harbored a 15q11.2 BP1-BP2 microdeletion. The maternal grandmother was unaffected by heart disease. However, heart computed tomography scan of the maternal aunt revealed a quadricuspid aortic valve. Additionally, the maternal grandmother and the maternal aunt both had significant learning disabilities. Rarely, TAPVC has been described in patients with the common 22q11.2 microdeletions. However, to the best of our knowledge, TAPVC has not previously been reported in patients with this small central 22q11.2 microdeletion. Haploinsufficiency of TBX1 was originally thought to be the main cause of the 22q11.2 microdeletion syndrome phenotype, but TBX1 is not included in the atypical central 22q11.2 microdeletion. Previous reports have suggested an association between TAPVC and the 15q11.2 BP1-BP2 microdeletion. Our report does not support this association as the maternal aunt, who harbors both microdeletions, is unaffected by TAPVC, and the male infant affected by TAPVC does not harbor the 15q11.2 BP1-BP2 microdeletion. Our findings support that genes located in the central 22q11.2 region are important for heart development and that haploinsufficiency of these genes plays a crucial role in the development of the rare heart defect TAPVC.

Prevalence and comorbidity of psychiatric symptomology in Pakistani female adolescents

Abstract Background Previous researchers have demonstrated the co-existence of psychiatric conditions across clinical as well as non-clinical samples in diverse situations. The present study examined the prevalence and co-morbidity of various psychiatric symptoms (e.g. learning disabilities, depression and anxiety) in school-age female adolescents. Methods In a cross-sectional random sampling method, 252 girls from two government schools in Lahore were assessed by Learning Disabilities Checklist, Children Depression Inventory and the Spence Anxiety Scale. Results The results demonstrate significant prevalence and co-morbidity of psychiatric symptoms. Of the 252 participants, 34%, 21% and 68% had significant learning disabilities, depression and anxiety symptoms respectively. In addition, 27% of them presented symptoms of three studied psychiatric conditions. A highly significant positive correlation was found between learning disabilities, depression and anxiety symptoms. Methods There is a dire need for preventative intervention programs to promote mental health at school level. Further, assessment plans for the screening of psychiatric symptoms in normative samples also need to be put in place.

Declarative Memory and Structural Language Impairment in Autistic Children and Adolescents.

Two experiments tested the hypothesis that a plausible contributory factor of structural language impairment in Autism Spectrum Disorder (ASD) is impaired declarative memory. We hypothesized that familiarity and recollection (subserving semantic and episodic memory, respectively) are both impaired in autistic individuals with clinically significant language impairment and learning disability (ASDLI/LD ); whereas recollection is selectively impaired in autistic individuals with typical language (ASDTL ). Teenagers with ASDLI/LD (n = 19) and primary school age children with ASDTL (n = 26) were compared with teenagers with learning disability (LD) (n = 26) without autism, and primary school aged typically developing (TD) children (n = 32). Both experiments provided strong support for the hypothesized links between declarative memory processes and lexical-semantic facets of language in the two autistic groups, but not in the TD group. Additional findings of interest were that declarative memory processes and lexical-semantic knowledge were also linked in the LD group and that the ASD groups-and to a lesser extent the LD group-may have compensated for declarative memory impairments using spared visual-perceptual abilities, a finding with potential educational implications. Relative difficulties with familiarity and recollection in ASDLI/LD and LD may help explain structural language impairment, as investigated here, but also the broader learning disabilities found in these populations. Autism Res 2020. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2020, 13: 1947-1958. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Language impairment and learning disability affect 45% of the autistic population yet the factors that may be contributing to them is remarkably under-researched. To date there are no explanations of the lexical semantic (word meaning) abnormalities observed in ASD. We found that declarative memory is associated with lexical semantic knowledge in autism and learning disability but not in typical development. Difficulties with declarative memory may also be compensated for using visual-perceptual abilities by autistic and learning-disabled adolescents, which has positive implications for educationalists.

A health promotion intervention to improve lifestyle choices and health outcomes in people with psychosis: a research programme including the IMPaCT RCT

A health promotion intervention to improve lifestyle choices and health outcomes in people with psychosis: a research programme including the IMPaCT RCT

Expert reading coaching via technology: Investigating the reading, writing, and spelling outcomes of students in grades K-8 experiencing significant reading learning disabilities.

While qualitative research has shown great benefits for teachers who receive coaching, there is a paucity of experimental research examining students' academic outcomes after their teachers received ongoing support from a knowledgeable and experienced coach. Thus, a quasi-experimental design investigated the literacy outcomes of 452 students experiencing reading learning disabilities in grades K-8th whose special education and/or resource room teachers (n = 44) received student data-focused coaching support through on-site coaching, on-demand coaching (teachers could request support if needed), or through technology-based coaching. Specifically, researchers wanted to investigate if technology-based coaching was as effective as in-classroom support for increasing teachers' knowledge and implementation of research-based reading instructional routines and ultimately, improving the reading, writing, and spelling outcomes of students with reading learning disabilities. Results yielded positive student academic growth for all three methods of coaching; however, coaching via technology, a more efficient, less time-consuming method of giving teachers ongoing professional development, produced larger statistically significant Cohen's d effect sizes than the other two forms of coaching ranging from 0.22 to 1.01 in areas of phonemic awareness, decoding, comprehension, fluency, writing, and spelling. Other findings as well as the educational implications of implementing coaching via technology are also included.

Early periventricular leukomalacia in preterm neonates

Background: Preterm neonates are at increased risk for brain injury. More than 10% will sustain neurological injuries leading to significant learning disabilities, motor developmental delay, cerebral palsy, seizures and mental retardation. Periventricular leukomalacia (PVL) is the most common form of white matter injury of prematurity. The objective of the present study was to identify the incidence of early periventricular leukomalacia (PVL) and its associated risk factors in the study group.Methods: All preterm neonates with either Gestational age <32weeks and/or Birth weight <1500 grams who were admitted to Neonatal Intensive Care Unit within the period of 1st November 2013 to 30th April 2015 were taken for study. A total of 112 babies met the inclusion criteria but 104 were finally taken into the study. Screening of intraventricular haemorrhage and early PVL changes in VLBW babies was done by neurosonogram on day 3 and day 14 of life by a single well qualified radiologist. Follow up cranial ultrasound was done weekly for the babies who were diagnosed to have IVH and/or PVL by day 14 of life.Results: The incidence of early periventricular leukomalacia in very low birth weight babies in present study was 7.7%. It was seen that 87.5% babies had periventricular flares and 12.5% babies had cystic changes. It was seen that birth weight<1000grams (OR 0.006; CI:0.00-0.50; p value 0.023) and neonatal sepsis (OR 80.9; CI:1.65-3947.6;p value 0.027) significantly increased the risk of developing PVL in VLBW babies. The duration of hospital stay was found to be significantly increased in babies having PVL.Conclusions: The incidence of early periventricular leukomalacia in babies born <32weeks gestation and/or birth weight<1500grams is 7.7%. Birth weight <1000 grams and neonatal sepsis were found to increase the risk of periventricular leukomalacia in these babies.

A longitudinal, observational study of the features of transitional healthcare associated with better outcomes for young people with long-term conditions

BackgroundMost evidence about what works in transitional care comes from small studies in single clinical specialties. We tested the hypothesis that exposures to nine recommended features of transitional healthcare were associated with better outcomes for young people with long-term conditions during transition from child-centred to adult-oriented health services.MethodsThis is a longitudinal, observational cohort study in UK secondary care including 374 young people, aged 14–18.9 years at recruitment, with type 1 diabetes (n = 150), cerebral palsy (n = 106) or autism spectrum disorder with an associated mental health problem (n = 118). All were pre-transfer and without significant learning disability. We approached all young people attending five paediatric diabetes centres, all young people with autism spectrum disorder attending four mental health centres, and randomly selected young people from two population-based cerebral palsy registers. Participants received four home research visits, 1 year apart and 274 participants (73%) completed follow-up.Outcome measures were Warwick Edinburgh Mental Wellbeing Scale, Mind the Gap Scale (satisfaction with services), Rotterdam Transition Profile (Participation) and Autonomy in Appointments.ResultsExposure to recommended features was 61% for ‘coordinated team’, 53% for ‘age-banded clinic’, 48% for ‘holistic life-skills training’, 42% for ‘promotion of health self-efficacy’, 40% for ‘meeting the adult team before transfer’, 34% for ‘appropriate parent involvement’ and less than 30% for ‘written transition plan’, ‘key worker’ and ‘transition manager for clinical team’.Three features were strongly associated with improved outcomes. (1) ‘Appropriate parent involvement’, example association with Wellbeing (b = 4.5, 95% CI 2.0–7.0, p = 0.001); (2) ‘Promotion of health self-efficacy’, example association with Satisfaction with Services (b = − 0.5, 95% CI – 0.9 to – 0.2, p = 0.006); (3) ‘Meeting the adult team before transfer’, example associations with Participation (arranging services and aids) (odds ratio 5.2, 95% CI 2.1–12.8, p < 0.001) and with Autonomy in Appointments (average 1.7 points higher, 95% CI 0.8–2.6, p < 0.001).There was slightly less recruitment of participants from areas with greater socioeconomic deprivation, though not with respect to family composition.ConclusionsThree features of transitional care were associated with improved outcomes. Results are likely to be generalisable because participants had three very different conditions, attending services at many UK sites. Results are relevant for clinicians as well as for commissioners and managers of health services. The challenge of introducing these three features across child and adult healthcare services, and the effects of doing so, should be assessed.

RTI for Students Presenting with Behavioral Difficulties:Culturally Responsive Guiding Questions

Response to Intervention (RTI) is a tiered intervention that assists school personnel in determining eligibility for special education services. Studies support the use of RTI as an early intervention for addressing significant learning disabilities (SLD) and social emotional behaviors, as well as for students who are culturally and linguistically diverse (CLD) and not making progress through general interventions. However, recommendations for implementation are not explicitly provided, especially for culturally responsive implementation. While proposed as a model for students with challenging behaviors, there is an absence of culturally responsive methods to support CLD students. This article will discuss the use of culturally responsive guiding questions in an RTI framework.

The contribution of short-term memory capacity to reading ability in adolescents with cochlear implants

ObjectiveThis study aimed to establish the relationship between short-term memory capacity and reading skills in adolescents with cochlear implants. Methods and materialsA between-groups design compared a group of young people with cochlear implants with a group of hearing peers on measures of reading, and auditory and visual short-term memory capacity. The groups were matched for non-verbal IQ and age. The adolescents with cochlear implants were recruited from the Cochlear Implant Programme at a specialist children's hospital. The hearing participants were recruited from the same schools as those attended by the implanted adolescents. Participants were 18 cochlear implant users and 14 hearing controls, aged between 12 and 18 years. All used English as their main language and had no significant learning disability or neuro-developmental disorder.Short-term memory capacity was assessed in the auditory modality using Forward and Reverse Digit Span from the WISC IV UK, and visually using Forward and Reverse Memory from the Leiter-R. Individual word reading, reading comprehension and pseudoword decoding were assessed using the WIAT II UK. ResultsA series of ANOVAs revealed that the adolescents with cochlear implants had significantly poorer auditory short-term memory capacity and reading skills (on all measures) compared with their hearing peers. However, when Forward Digit Span was entered into the analyses as a covariate, none of the differences remained statistically significant. ConclusionsDeficits in immediate auditory memory persist into adolescence in deaf children with cochlear implants. Short-term auditory memory capacity is an important neurocognitive process in the development of reading skills after cochlear implantation in childhood that remains evident in later adolescence.

Normalization of brain morphology after surgery in sagittal craniosynostosis.

OBJECT Nonsyndromic craniosynostosis (NSC) is associated with significant learning disability later in life. Surgical reconstruction is typically performed before 1 year of age to correct the cranial vault morphology and to allow for normalized brain growth with the goal of improving cognitive function. Yet, no studies have assessed to what extent normalized brain growth is actually achieved. Recent advances in MRI have allowed for automated methods of objectively assessing subtle and pronounced brain morphological differences. The authors used one such technique, deformation-based morphometry (DBM) Jacobian mapping, to determine how previously treated adolescents with sagittal NSC (sNSC) significantly differ in brain anatomy compared with healthy matched controls up to 11.5 years after surgery. METHODS Eight adolescent patients with sNSC, previously treated via whole-vault cranioplasty at a mean age of 7 months, and 8 age- and IQ-matched control subjects without craniosynostosis (mean age for both groups = 12.3 years), underwent functional 3-T MRI. Statistically significant group tissue-volume differences were assessed using DBM, a whole-brain technique that estimates morphological differences between 2 groups at each voxel (p < 0.01). Group-wise Jacobian volume maps were generated using a spacing of 1.5 mm and a resolution of 1.05 × 1.05 × 1.05 mm(3). RESULTS There were no significant areas of volume reduction or expansion in any brain areas in adolescents with sNSC compared with controls at a significance level of p < 0.01. At the more liberal threshold of p < 0.05, two areas of brain expansion extending anteroposteriorly in the right temporooccipital and left frontoparietal regions appeared in patients with sNSC compared with controls. CONCLUSIONS Compared with previous reports on untreated infants with sNSC, adolescents with sNSC in this cohort had few areas of brain dysmorphology many years after surgery. This result suggests that comprehensive cranioplasty performed at an early age offers substantial brain normalization by adolescence, but also that some effects of vault constriction may still persist after treatment. Specifically, few areas of expansion in frontoparietal and temporooccipital regions may persist. Overall, data from this small cohort support the primary goal of surgery in allowing for more normalized brain growth. Larger samples, and correlating degree of normalization with cognitive performance in NSC, are warranted.

Abstract 15517: Receipt of Special Education Services Among Children with Congenital Heart Defects in Atlanta, Georgia

BACKGROUND: Population-based information on special education service needs among children with congenital heart defects (CHDs) is limited. We investigated the prevalence of receipt of special education services among children with CHDs. METHODS: Children born from 1982-2004 in metropolitan Atlanta with CHDs (n=3,744) were identified from a population-based birth defect surveillance program, and contemporaneous children born without major birth defects (n=860,715) were identified from birth certificates. Cohorts were linked to special education files for 1992-2012 school years to identify receipt of special education services. Children with CHDs and non-cardiac defects or genetic syndromes were excluded; children with isolated CHDs were classified by presence or absence of critical CHDs (i.e., defects needing intervention in the first year of life). We evaluated prevalence of special education services and calculated prevalence ratios (PRs) using children without birth defects as reference. RESULTS: Children with CHDs were 50% more likely than those without birth defects to use special education services (PR 1.5; 95% Confidence interval 1.4-1.7). Similar to children without birth defects, the most common eligibility among children with CHDs was speech/language impairment. Compared to children without birth defects, the prevalence of several special education eligibilities were significantly higher among children with all CHDs: any intellectual disability (PR 3.8), sensory impairment (PR 3.0), other health impairment (PR 2.8), significant developmental delay (PR 1.9), orthopedic impairment (PR 1.9), and specific learning disability (PR 1.4). For most special education eligibilities, there was no significant variation in the elevated prevalence ratios by presence or absence of critical CHDs. CONCLUSIONS: Children with many types of CHDs received special education services more often than children without birth defects. These findings highlight important resource needs for children with CHDs. Furthermore, they suggest that recommendations to perform developmental screening only on children with select CHDs may miss or delay identification of children with other CHDs, who may also need special education services.

Long-term Motor and Cognitive Outcome of Acute Encephalitis

To examine the long-term motor and neurocognitive outcome of children with acute encephalitis and to look at possible prognostic factors. Children who were treated for acute encephalitis in 2000-2010 were reevaluated. All children and their parents were interviewed by using structured questionnaires, and the children underwent full neurologic examinations, along with comprehensive neurocognitive, attention, and behavioral assessments. Of the 47 children enrolled, 1 died and 29 had neurologic sequelae, including motor impairment, mental retardation, epilepsy, and attention and learning disorders. Children with encephalitis had a significantly higher prevalence of attention-deficit/hyperactivity disorder (50%) and learning disabilities (20%) compared with the reported rate (5%-10%) in the general population of Israel (P < .05) and lower IQ scores. Lower intelligence scores and significantly impaired attention and learning were found even in children who were considered fully recovered at the time of discharge. Risk factors for long-term severe neurologic sequelae were focal signs in the neurologic examination and abnormal neuroimaging on admission, confirmed infectious cause, and long hospital stay. Encephalitis in children may be associated with significant long-term neurologic sequelae. Significant cognitive impairment, attention-deficit/hyperactivity disorder, and learning disabilities are common, and even children who were considered fully recovered at discharge may be significantly affected. Neuropsychological testing should be recommended for survivors of childhood encephalitis.

Head Circumference Growth Function as a Marker of Neurological Impairment in a Cohort of Microcephalic Infants and Children

Our aim was to investigate the correlations between head circumference (HC) growth and neurological impairment in microcephalic patients.HC charts of 3,269 patients from a tertiary pediatric neurology section were reviewed and 136 microcephalic participants were selected. Standardized HC Minimum, HC Drop, and HC Catch-up variables were defined. Children with evidence of significant learning disability and/or significant cerebral palsy were classified within the neurologically impaired group and the rest of participants within the normal group.Using discriminant analysis, we found that HC Minimum and HC Drop were relevant markers of neurological impairment. A positive HC Catch-up was significantly linked to a better outcome although this variable did not add significant information to HC Minimum and HC Drop. A Fisher linear discrimination cutoff function (C-function) was obtained as C = HC Minimum + HC Drop with a cutoff level of C = -4.28 standard deviations (SD).In our cohort, the addition of the lowest HC z-score to the preceding HC z-score drop was below -4.28 SD in 6 out of 10 neurologically impaired patients , whereas in the normal group, the result was over -4.28 SD in 9 out of 10 participants.

African American Grandchildren Raised in Grandparent-Headed Families: An Exploratory Study

There has been an increase in grandparents raising their grandchildren due to parental absence. This family structure has affected urban, single, low-income African Americans at a higher rate than any other racial group. Research on grandchildren reared in grandparent-headed families (GHF) states these children are at risk of significant emotional, behavioral, physical problems, and learning disabilities than children living with their biological parents. This exploratory study involved qualitative individual interviews with 14 African American grandchildren ages 10–16 and their 6 grandparent caregivers. Results indicated that although the majority of the grandchildren were content living with their grandparents, they experienced adjustment issues related to their histories of family disruption and parental loss. Family factors that might affect grandchildren’s adjustment to living in a GHF are discussed, as well as implications for counselors and recommendations for future research with grandchildren from GHF.

Impaired Acuity of the Approximate Number System Underlies Mathematical Learning Disability (Dyscalculia)

Many children have significant mathematical learning disabilities (MLD, or dyscalculia) despite adequate schooling. The current study hypothesizes that MLD partly results from a deficiency in the Approximate Number System (ANS) that supports nonverbal numerical representations across species and throughout development. In this study of 71 ninth graders, it is shown that students with MLD have significantly poorer ANS precision than students in all other mathematics achievement groups (low, typically, and high achieving), as measured by psychophysical assessments of ANS acuity (w) and of the mappings between ANS representations and number words (cv). This relation persists even when controlling for domain-general abilities. Furthermore, this ANS precision does not differentiate low-achieving from typically achieving students, suggesting an ANS deficit that is specific to MLD.

The emergence of autoclitic frames in atypically and typically developing children as a function of multiple exemplar instruction.

In two experiments, we tested the effect of multiple exemplar instruction (MEI) for training sets on the emergence of autoclitic frames for spatial relations for novel tacts and mands. In Experiment 1, we used a replicated pre- and post-intervention probe design with four students with significant learning disabilities to test for acquisition of four autoclitic frames with novel tacts and mands before and after MEI. The untaught topographies emerged for all participants. In Experiment 2, we used a multiple probe design to test the effects of the MEI procedures on the same responses in four typically developing, bilingual students. The novel usage emerged for all participants. In the latter experiment, the children demonstrated untaught usage of mand or tact frames regardless of whether they were taught to respond in either listener or speaker functions alone or across listener and speaker functions. The findings are discussed in terms of the role of MEI in the formation of abstractions.

Cutaneous features in 17q21.31 deletion syndrome

Microdeletion of 17q21.31 causes a recurrent recognizable dysmorphic syndrome. A further four patients with 17q21.31 microdeletions are reported here in whom an earlier diagnosis of cardio-facio-cutaneous syndrome was suggested. These patients have significant similarities of facial gestalt to earlier reported 17q21.31 microdeletion patients, but a striking feature that has not been emphasized previously is the large number of naevi and other pigmentary skin abnormalities that may be present. These features, together with a coarse facial appearance, relative macrocephaly and significant learning disabilities, were what had led to the earlier diagnostic suggestion of cardio-facio-cutaneous syndrome in each of these four cases.

Habit Reversal Treatment of Repetitive Hand Writing in a 7-Year-Old Child with a Learning Disability

Habit reversal (HR) is a cognitive—behavioral treatment for tic disorders, Tourette syndrome, stereotypic movements, and habit disorders. This case study utilizes aspects of habit reversal, including awareness training, self-monitoring, and competing response training, as an intervention for obsessive—compulsive repetitive air handwriting in a 7-year-old girl with a significant learning disability. Therapy is provided on an outpatient basis in a private practice setting. Analysis of in-home, at-school, and in-session data collected by the parents, teacher, and therapist show decreased frequency in repetitive handwriting. Supplemental and cojoint administration of antianxiety medication extinguishes all obsessive handwriting within a 6-month period. These results support previous research demonstrating the efficacy of cojoint cognitive—behavioral and medication treatment of acute obsessive—compulsive symptomatology in children.

Expanding the phenotype of mosaic trisomy 20

Mosaic trisomy 20 is one of the more common cytogenetic abnormalities found on amniocentesis or chorionic villus sampling. Studies have shown that outcome is normal in 90-93% of prenatally diagnosed cases. There are however, reports in the literature of children with mosaic trisomy 20 described as having an assortment of dysmorphic features and varying levels of developmental delay. Unfortunately, the literature has not defined a specific phenotype for this entity. Here we report on three patients with mosaic trisomy 20, two of whom were identified prenatally. Over a number of years of follow-up it has become apparent that there are some striking similarities among the three. Comparison between our patients and the literature cases indicates a more consistent phenotype than has previously been suggested. Recurring features include; spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. These findings may be overlooked on routine history and physical exam or assumed to be standard pediatric problems. It is not our intention to suggest that there is a distinctive face for this entity but to suggest that a subtle phenotype does exist. We have attempted to identify a set of findings for which any child diagnosed with mosaic trisomy 20 should be assessed or followed even in the presence of an apparently normal physical exam at birth.

The delivery of a survivors’ group for learning disabled women with significant learning disabilities who have been sexually abused

Accessible summary People with learning disabilities are more likely to experience sexual things happening to them when they do not want them to. This is called sexual abuse. A group was started to help women who have been sexually abused. The group met once a week and lasted for 20 weeks. Women who were interested in attending this group were given information about it and asked on three separate occasions if they wanted to attend. Seven women with learning disabilities took part in the group and their carers helped them travel to the group and then went into a separate carers group upstairs. After the groups had finished the carers helped the women get home again. Some of the women found it very difficult to talk about the sexual abuse that had happened to them. At first they felt very upset and two women hurt themselves. Everybody felt angry about what had happened and it was good to hear they were not alone. After several months the group helped the women feel less scared and depressed and helped the women's carers understand them better. This research matters because it helped the women move on with their lives and will help others who want to start a survivors’ of sexual abuse group.