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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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INTRODUCTION: Developmental and Epileptic Encephalopathies (DEEs) encompass a group of neurological disorders caused by either abnormal neuronal development and white matter maturation or even by weak synaptic plasticity. Hitherto, patients commonly have epileptic seizures featuring cognitive dysfunction, such as neurosensory disorders, difficulties in learning, behavioral disturbances, or speech delay. AREAS COVERED: This paper provides a comprehensive review of the current knowledge of DEEs and cognition. Medline/Pubmed database was screened for in-English articles published between 1967-2022 dealing with the topic of DEEs and cognitive development. Two authors independently screened the title and abstract of each record and reviewed the selected articles. Reviews, randomized clinical trials, and case reports were selected. EXPERT OPINION: Scientific literature has never explicitly dealt with the early neuro-psychomotor rehabilitation and neuropsychological assessment of patients with DEEs. Targeted intervention and environmental stimuli can influence the maturation of neuronal circuits and shape changes in physical and mental development based on neuronal plasticity, particularly if applied in 'critical periods' liable to heightened sensitivity. Thus, 'early neurorehabilitation interventions' are worthy of being more and more applied to clinical practice to improve the quality of life and reduce the psychosocial burden on families and caregivers.
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Encefalopatías , Disfunción Cognitiva , Humanos , Calidad de Vida , Convulsiones , CogniciónRESUMEN
The recent NICE epilepsy Guideline (NG217; 2022) recommends that epilepsy professionals need to be alert to autism when considering mental health presentations, behavioural difficulties and as a marker for referral for whole genome sequencing for those patients with epilepsy of unknown cause. However, this relies upon the existence of valid autism screens for people with epilepsy (PWE). We found few studies of autism in cognitively able PWE. This represents an important gap in the literature. We describe different autism screening and diagnostic tools; two screening tools have been used specifically for adult PWE who are cognitively able (AQ, SRS-AS). The AQ is more psychometrically robust, but there may be an overlap between these screening questions and questions relevant to some psychiatric disorders. Formal gold-standard diagnostic tools (module 4 of ADOS-2, ADI-R or 3Di or 3Di-Adult) would benefit from studies of their application to cognitively able PWE. More research is needed to understand the characteristics of autism in cognitively able PWE and to ascertain the appropriate screening and diagnostic tools for this cohort.