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Objectives: CDKL5 developmental and epileptic encephalopathy (CDKL5-DEE) is a rare X-linked dominant genetic disorder. Family-centered Early Intervention (EI) programs, which promote axonal plasticity and synaptic reorganization through exposure to an enriched environment, should be integrated into clinical practice. However, there is presently a dearth of dedicated EI protocols for patients with CDKL5-DEE and cerebral visual impairment (CVI). Methods: We present a girl with a deletion of the CDKL5 gene (MIM*300203). At the age of 2 months, the child presented with severe epilepsy. The neurologic examination was abnormal, and she had severe CVI. At the first assessment, at 5 months old, her Developmental Quotient (DQ) on the Griffiths Mental Developmental Scales III (GMDS-III) was equivalent to 3-month-old skills (95% CI). The child was enrolled in an EI program for 6 months. Results: At 12 months of age, the DQ score was 91. There has been improvement in the neurovisual functions. The findings from the scales show a gradual improvement in neuromotor and psychomotor development, which is in contrast to the expected outcome of the disease. Discussion: The case study shows that a family-centered EI and prompt assessment of CVI can promote and enhance neurodevelopment.
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The early intervention of motor training based on specific tasks and parent empowerment represents the new paradigm for the rehabilitation of children with Cerebral Palsy (CP). However, most published studies address the problem of the effectiveness of rehabilitation intervention without describing the treatment methodology or briefly mentioning it. The purpose of the study is to illustrate the development of a play-based motor learning approach titled A.MO.GIOCO (Apprendimento MOtorio nel GIOCO) and its systematization. Fifteen children aged between 2 and 6 years with bilateral CP will be enrolled and treated for 6-8 weeks (48 h). Motor Teaching methods applied by senior therapists have been extensively described, starting from rehabilitation goals and proposed therapeutic play activities, tailored to the functional profile of each child. This child-friendly rehabilitative approach (A.MO.GIOCO) refers to the systemic cognitive model of learning and movement control and is implemented in the context of spontaneous play activities and in the therapist-child-family interaction. In this study the theoretical framework of the approach and the process followed by the therapists to transfer it into rehabilitative practice are highlighted. As a result, an operational guide has been created. Further studies will explore the efficacy of the proposed standardized approach.
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Though considered a benign condition, idiopathic infantile nystagmus (IIN) may be associated with decreased visual acuity and oculo-motor abnormalities, resulting in developmental delays and poor academic performance. Nevertheless, the specific visual function profile of IIN and its possible impact on neuropsychological development have been poorly investigated. To fill this gap, we retrospectively collected the clinical data of 60 children presenting with IIN over a 10-year period (43 male; mean age of 7 years, range of 2 months-17 years, 9 months). The majority of the subjects in our cohort presented with reduced visual acuity for far distances and normal visual acuity for near distances, associated with oculo-motor abnormalities. The overall scores of cognitive and visual-cognitive tests were in the normal range, but revealed peculiar cognitive and visual-cognitive profiles, defined by specific frailties in processing speed and visual-motor integration. The same neuropsychological profiles characterize many neurodevelopmental disorders and may express a transnosographic vulnerability of the dorsal stream. As the first study to explore the neuropsychologic competencies in children with IIN, our study unveils the presence of subclinical frailties that need to be addressed to sustain academic and social inclusion.
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Background: Face-to-face visual contact is a key component of the early parent-child interaction, therefore a visual impairment condition of the parent or the child represents a risk factor for dyadic patterns' development. Aims: The study presents a critical single case of a blind father and a 18-month-old visually impaired child. The study aims to explore changes in the relational functioning of this dyad during an early family-centered intervention. Methods and procedures: Ten parent-child sessions were videotaped and micro-analytically coded. Data were analyzed through a State Space Grid crossing child's social cues and types of father verbalizations. Outcomes and results: Findings showed a stable increase in the amount of child social cues over time. Moreover, the dyad exhibited progressive changes in dyadic regulation, stability, and organization. The return time to the "active interaction" region of interest decreased progressively. A reduction was observed also for the time spent by the dyad in the region "no vocal contact." Conclusions and implications: This critical single case highlighted the benefits of parental engagement in early interventions for the dyadic regulation in parent-child interaction.
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In the pediatric context, parents' and patients' engagement in the care process is strongly recommended and could be pursued using patient-reported outcome measures (PROMs), which therefore become useful for planning and monitoring treatments. Nevertheless, few data are available from families of children with neurodevelopmental disorders such as visual impairment (VI). The Visual Impairment Developmental Autonomy (VIDA) project aims to develop and validate a patient- and parent-reported tool to measure the most relevant aspects concerning everyday adaptive abilities in children and adolescents with visual impairment: the VIDA scale. The present paper illustrates the Delphi process of item generation engaging parents and patients and presents a protocol for the validation of this new co-designed tool in an Italian visually impaired pediatric population. Twenty-three families and five adolescents provided a list of 192 items and assessed their relevance. Items were categorized in 5 areas of adaptive abilities (i.e., table manners, clothing, personal hygiene, orientation and mobility, and socio-affectivity) and into three age ranges based on the patient's age. The final 102-item Vida Scale will be administered to a minimum of 300 visually impaired children together with measures of quality of life and child adjustment to investigate its psychometric properties.
Subject(s)
Quality of Life , Vision, Low , Adolescent , Humans , Child , Vision Disorders , Surveys and Questionnaires , Patient Reported Outcome Measures , ParentsABSTRACT
Introduction: A comprehensive assessment of visual functioning at an early age is important not only for identifying and defining visual impairment but also for planning personalized rehabilitation programs based on the visual diagnosis. Since existing tools to evaluate visual functioning present some important limitations (e.g., they are based on qualitative reports, they do not take into account environmental adaptations of visual testing or they have not been formally validated as clinical instruments), the present work has the main aim to propose a new clinical tool (Visual Function Score, VFS) to detect and define visual disorders at an early age. Methods: The Visual Function Score was administered to one hundred visually impaired children (age range 4 months to 17.75 years old) in the form of a professional-reported protocol for a total of 51 items, each of which is assigned a score from 1 to 9 (or from 0 to 9 in some specific cases). The VFS produces three sub-scores and a global score (from 0 to 100), resulting in a quantitative evaluation of visual functioning. Results: The VFS can detect the well-known differences between different types of visual impairment (cerebral, oculomotor, and peripheral or grouped as central and peripheral) and takes into account different environments in the definition of a quantitative score of visual functioning. Discussion: Overall, the use of a quantitative tool to evaluate visual functions and functional vision such as the VFS would be fundamental to monitor the progresses of patients over time in response to rehabilitation interventions.
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Congenital visual impairment may have a negative impact on spatial abilities and result in severe delays in perceptual, social, motor, and cognitive skills across life span. Despite several evidences have highlighted the need for an early introduction of re-habilitation interventions, such interventions are rarely adapted to children's visual capabilities and very few studies have been conducted to assess their long-term efficacy. In this work, we present a case study of a visually impaired child enrolled in a newly developed re-habilitation intervention aimed at improving the overall development through the diversification of re-habilitation activities based on visual potential and developmental profile, with a focus on spatial functioning. We argue that intervention for visually impaired children should be (a) adapted to their visual capabilities, in order to increase re-habilitation outcomes, (b) multi-interdisciplinary and multidimensional, to improve adaptive abilities across development, (c) multisensory, to promote the integration of different perceptual information coming from the environment.
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Several works have demonstrated that visual experience plays a critical role in the development of allocentric spatial coding. Indeed, while children with a typical development start to code space by relying on allocentric landmarks from the first year of life, blind children remain anchored to an egocentric perspective until late adolescence. Nonetheless, little is known about when and how visually impaired children acquire the ability to switch from an egocentric to an allocentric frame of reference across childhood. This work aims to investigate whether visual experience is necessary to shift from bodily to external frames of reference. Children with visual impairment and normally sighted controls between 4 and 9 years of age were asked to solve a visual switching-perspective task requiring them to assume an egocentric or an allocentric perspective depending on the task condition. We hypothesize that, if visual experience is necessary for allocentric spatial coding, then visually impaired children would have been impaired to switch from egocentric to allocentric perspectives. Results support this hypothesis, confirming a developmental delay in the ability to update spatial coordinates in visually impaired children. It suggests a pivotal role of vision in shaping allocentric spatial coding across development.
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AIM: We set out to describe 17 patients with septo-optic dysplasia (SOD), focusing on the little-explored neurological, cognitive, and neuro-ophthalmological components. A further aim was to identify possible clinical correlations and phenotypic characteristics within the diagnostic spectrum. METHOD: We collected clinical-instrumental data (from the history, general and neurological examination, developmental assessment, and neuro-ophthalmological, neuroradiological, neurophysiological, and endocrinological evaluations) on nine males and eight females (mean age 34.4mo, SD 31.6; range 4mo-9y 6mo) diagnosed with SOD who were referred to our Centre of Child Neuro-ophthalmology between 1999 and 2010. RESULTS: We observed a heterogeneous clinical spectrum characterized by nervous system, visual, and endocrine dysfunctions; optic nerve involvement was present in all 17 children, midline brain defects in 14, and cortical developmental malformations in seven. Developmental/cognitive delay and relational and communication difficulties were observed in eight and seven children, respectively, and reduced visual acuity and oculomotor dysfunction were observed in all. Pituitary hormone deficiencies were present in nine children. INTERPRETATION: Nervous system involvement emerged as a key feature of SOD. As part of a holistic approach to the disease, particular attention should be paid to this aspect. The emergence of new clinical correlations and correlations between clinical features and three SOD subtypes opens the way for better clarification of this disease and, therefore, more targeted diagnosis, follow-up, and care of affected children.
Subject(s)
Brain/abnormalities , Nervous System Diseases/diagnosis , Pituitary Diseases/diagnosis , Septo-Optic Dysplasia/diagnosis , Child , Child, Preschool , Female , Humans , Infant , Intellectual Disability/diagnosis , Intellectual Disability/etiology , Male , Nervous System Diseases/etiology , Oculomotor Nerve Diseases/diagnosis , Oculomotor Nerve Diseases/etiology , Optic Nerve Diseases/diagnosis , Optic Nerve Diseases/etiology , Pituitary Diseases/etiology , Pituitary Hormones/deficiency , Septo-Optic Dysplasia/classification , Septo-Optic Dysplasia/physiopathology , Vision Disorders/diagnosis , Vision Disorders/etiologyABSTRACT
BACKGROUND: The capacity to reach an object presented through sound clue indicates, in the blind child, the acquisition of object permanence and gives information over his/her cognitive development. AIM: To assess cognitive development in congenitally blind children with or without multiple disabilities. STUDY DESIGN: Cohort study. SUBJECTS: Thirty-seven congenitally blind subjects (17 with associated multiple disabilities, 20 mainly blind) were enrolled. OUTCOME MEASURES: We used Bigelow's protocol to evaluate "reach on sound" capacity over time (at 6, 12, 18, 24, and 36 months), and a battery of clinical, neurophysiological and cognitive instruments to assess clinical features. RESULTS: Tasks n.1 to 5 were acquired by most of the mainly blind children by 12 months of age. Task 6 coincided with a drop in performance, and the acquisition of the subsequent tasks showed a less agehomogeneous pattern. In blind children with multiple disabilities, task acquisition rates were lower, with the curves dipping in relation to the more complex tasks. CONCLUSIONS: The mainly blind subjects managed to overcome Fraiberg's "conceptual problem"--i.e., they acquired the ability to attribute an external object with identity and substance even when it manifested its presence through sound only--and thus developed the ability to reach an object presented through sound. Instead, most of the blind children with multiple disabilities presented poor performances on the "reach on sound" protocol and were unable, before 36 months of age, to develop the strategies needed to resolve Fraiberg's "conceptual problem".
