BackgroundCerebral Visual Impairment (CVI) is a very common finding in children affected by Cerebral Palsy (CP). In this paper we studied the characteristics of CVI of a large group of children with CP and CVI, describing their neurovisual profiles according to three different age subgroups (subgroup 1: infants 6 months–2 years; subgroup 2: pre-school age 3–5 years; subgroup 3: school age ≥ 6 years).MethodsWe enrolled 180 subjects (104 males, mean age 66 ± 42.6 months; range 6–192 months) with CP and CVI for the study. We carried out a demographic and clinical data collection, neurological examination, developmental or cognitive assessment, and a video-recorded visual function assessment including an evaluation of ophthalmological characteristics, oculomotor functions, and basic visual functions. In school-aged children, we also performed an evaluation of their cognitive-visual profiles.ResultsThere were signs of CVI in all the three subgroups. Subgroup 1 (62 children) and subgroup 2 (50 children) were different for fixation (p = 0.02), visual acuity (p = 0.03) and contrast sensitivity (p < 0.01), being more frequently impaired in younger children. Comparing subgroup 2 with subgroup 3 (68 children), the older children presented more frequently myopia (p = 0.02) while the younger ones esotropia (p = 0.02) and alteration in smooth pursuit (p = 0.03) and saccades (p < 0.01). Furthermore, fixation, smooth pursuit, visual acuity, contrast sensitivity and visual filed (p < 0.01) were more frequently impaired in younger children (subgroup 1) compared to the older ones. Multiple correspondence analysis (MCA) confirmed the different neurovisual profiles according to age: younger children with CP showed more signs of CVI compared to the older ones. 34 out of 68 children belonging to subgroup 3 underwent the cognitive visual evaluation; an impairment of cognitive visual skills was detected in 21 subjects.ConclusionYounger children with CP showed more signs of CVI compared to the older ones, likely for the physiological maturation of visual system and mechanisms of neuroplasticity. In this direction, we suggest an early neurovisual evaluation to detect any weak visual functions.
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.
BackgroundSleep disturbances are common in children affected by Autism Spectrum Disorder (ASD). The aim of our study was to describe sleep characteristics and disturbances in children with ASD, to evaluate possible related factors, and to assess parental stress.MethodsHundred children with a diagnosis of ASD (mean age: 66.7 months, SD: 27.4, range: 24.7–152.1 months, n = 79 males) were included in the study. We collected data on sociodemographic, clinical, genetic and instrumental variables as well as comorbid conditions. Parents filled out the Questionnaire on sleep behavior in the first years of life, the BEARS questionnaire, and the Parenting Stress Index Short Form. From the analysis on sleep characteristics, we excluded 25 children treated with melatonin.ResultsFifty-seven (57%) out of 100 children met the criteria for insomnia. Sleep disorders were associated with developmental or cognitive delay, emotional and behavioral problems (such as anxiety problems and aggressive behaviors) and absence of strategies for inducing sleep after nocturnal awakenings. From parents' reports, sleep disorders had diurnal repercussions on their offspring; however, we found no statistical correlation between disturbances and family stress. Also, no significant correlation was found between sleep disturbances and epilepsy. Finally, a statistical correlation was found between the regular intake of melatonin and the resolution of insomnia.ConclusionsMultifactorial variables may be associated to insomnia that could have an impact on the children' behavior. Clinicians need to be aware of the value of screening for sleep disturbance in children with ASD to integrate sleep interventions in the treatment plan.
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