Academic skills in children with cerebral palsy and specific learning disorders.

AIM: To investigate the prevalence and clinical manifestations of reading, writing, and mathematics disorders in children with cerebral palsy (CP). We explored how the clinical profile of these children differed from those with specific learning disorders (SLDs), taking into account several factors, particularly IQ scores, neuropsychological aspects, and the presence of a visual impairment. METHOD: A prospective cross-sectional study was conducted in 42 children with CP (mean age 9 years 8 months; SD = 2 years 2 months) and 60 children with SLDs (mean age 10 years; SD = 1 year 7 months). Clinical characteristics, neuromotor and cognitive profiles, neuropsychological aspects (speech performance, academic skills, visual attention, phonological awareness, working memory), and signs of visual impairment (visual acuity, contrast sensitivity, visual field, oculomotor functions) were assessed. A machine learning approach consisting of a random forest algorithm, where the outcome was the diagnosis and the covariates were the clinical variables collected in the sample, was used for the analyses. RESULTS: About 59% of the children with CP had reading, writing, or mathematics disorders. Children with CP with learning disorders had a low performance IQ, normal phonological awareness, and working memory difficulties, whereas children with SLDs had normal performance IQ, impaired phonological awareness, and mild working memory difficulties. There were no differences in verbal IQ between the two groups. INTERPRETATION: Learning disorders are frequently associated with CP, with different clinical characteristics, compared with SLDs. Assessment of academic skills is mandatory in these children, even if the IQ is normal. At school age, specific interventions to promote academic skills in children with CP could be a major rehabilitative goal.

Oculocutaneous albinism: the neurological, behavioral, and neuro-ophthalmological perspective.

Oculocutaneous albinism (OCA) is a group of rare, genetic disorders caused by absent/reduced melanin biosynthesis. The aim of this study was to explore the neurovisual, cognitive, adaptive, and behavioral profile of children affected by OCA, also evaluating any possible effect of the visual acuity deficit on the clinical profile and genotype-phenotype correlations. Eighteen children (9 males, mean age 84 months ± 41; range 18-181 months) with a molecular confirmed diagnosis of OCA were enrolled in the study. We collected data on clinical history, neurodevelopmental profile, neurological and neurovisual examination, and cognitive, adaptive, and emotional/behavioral functioning. A global neurodevelopmental impairment was detected in 56% of the children, without evolving into an intellectual disability. All the patients showed signs and symptoms of visual impairment. Low adaptive functioning was observed in 3 cases (17%). A risk for internalizing behavioral problems was documented in 6 cases (33%), for externalizing problems in 2 (11%), and for both in 5 (28%). Twelve children (67%) showed one or more autistic-like features. Correlation analyses revealed significant associations between the visual acuity level and performance intelligence quotient (p = 0.001), processing speed index (p = 0.021), Vineland total score (p = 0.020), Vineland communication (p = 0.020), and socialization (p = 0.037) domains. No significant correlations were found between genotype and phenotype. CONCLUSION: Children with OCA may present a global neurodevelopmental delay that seems to improve with age and emotional/behavioral difficulties, along with the well-known visual impairment. An early neuropsychiatric evaluation and habilitative training are recommended to improve vision-related performance, neurodevelopment, and any psychological difficulties. WHAT IS KNOWN: • Children with oculocutaneous albinism show dermatological and ophthalmological problems. • An early visual impairment may have negative implications on motor, emotional, and cognitive processes that would allow the child to organize his or her experiences. WHAT IS NEW: • In addition to a variable combination of ocular signs and symptoms, children with oculocutaneous albinism may present an early neurodevelopmental delay and emotional/behavioral difficulties. • An early visual treatment is recommended to improve vision-related performance, neurodevelopment, and any psychological difficulties.

Neurodevelopmental Profile in Children Affected by Ocular Albinism.

AIM: The aim of this study was to detail the neurodevelopmental profile of subjects affected by ocular albinism (OA) and to collect data on GPR143 gene analysis. DESIGN: The design of the study involves a retrospective longitudinal observational case series. METHODS: We collected data on the neurodevelopmental profile of 13 children affected by OA from clinical annual assessments conducted for a period of 6 years after the first evaluation. We described visual profile, neuromotor development and neurological examination, cognitive profile, communication and language skills and behavioral characteristics. The GPR143 gene analysis was performed as well. RESULTS: Children presented a variable combination of ocular and oculomotor disorders unchanged during the follow-up, a deficit in visual acuity and in contrast sensitivity that progressively improved. Abnormalities in pattern visual evoked potential were found. No deficits were detected at neurological examination and neuromotor development except for a mild impairment in hand-eye coordination observed in five cases. A language delay was observed in five cases, two of whom had also a developmental quotient delay at 2 years evolving to a borderline/deficit cognitive level at preschool age, difficulties in adaptive behavior and autistic-like features were found. Mutations in the GPR143 gene were identified in the two patients who presented the most severe clinical phenotype. CONCLUSION: Children with OA may share, in addition to a variable combination of ocular signs and symptoms, a neurodevelopment impairment regarding mostly the cognitive, communicative, and social area, especially those with GPR143 mutation.

Promoting Language Skills in Children With Neuromotor and Intellectual Disorders: Telepractice at the Time of SARS-CoV-2.

Purpose The aim of this pilot study is to gather preliminary results on the effectiveness of intensive, parent-oriented, telepractice-based intervention to improve language skills in preschool children with neuromotor and intellectual disorders. Method Nine preschool children (M = 63 months, SD = 8.7 months) underwent a telepractice program 4 times a week designed to promote speech, lexical, and syntactic skills. Families were remotely connected from home with the therapists, who controlled the rehabilitation procedures from the hospital. The number of stable phonemes, of understood and repeated words, and of understood and repeated sentences were evaluated as outcome measures 3 months (prebaseline) and 1 week (baseline) before the intervention, immediately after the intervention (T1) and at a 3-month follow-up (T2). Results An increase in the number of stable phonemes was detected after the treatment, even if it was not statistically significant. After the intervention program, there was a significant increase in the number of understood words (ratio T1 vs. baseline: 1.33; 95% CI [1.03, 1.71]) and repeated words (ratio T1 vs. baseline: 1.39; 95% CI [1.00, 1.92]), as well as of understood sentences (ratio T1 vs. baseline: 1.80; 95% CI [1.24, 2.35]) and repeated sentences (ratio T1 vs. baseline: 4.23; 95% CI [1.96, 9.12]). No significant differences were found when comparing all the outcome measures at prebaseline and at baseline. Conclusion An intensive, parent-oriented, telepractice-based intervention has the potential to increase scores of lexical and syntactic tasks in children with neuromotor and intellectual disorders.