Evidence map›Paper›PMID 38660576›Full record

ArticleNeurology. Clinical practice2024

Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report.

Martina Giorgia Perinelli, Cecilia Naboni, Ganna Balagura, Elisabetta Amadori, Maria Stella Vari, Valeria Capra, Camelia Lentoiou, Thomas Foiadelli, Fabio Sirchia, Antonella Luparia and 3 more

Open access · hybridAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Clinical practice, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
1.1field-weighted citation impact, top 21% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 1 institution in 3 countries.

Martina Giorgia PerinelliDepartment of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy.ORCID https://orcid.org/0000-0001-7621-7183
Cecilia NaboniDepartment of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy.
Ganna BalaguraDepartment of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy.ORCID https://orcid.org/0000-0003-0212-8318
Elisabetta AmadoriDepartment of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy.ORCID https://orcid.org/0000-0003-0935-7404
Maria Stella VariDepartment of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy.
Valeria CapraDepartment of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy.ORCID https://orcid.org/0000-0002-3097-0388
Camelia LentoiouDepartment of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy.
Thomas FoiadelliDepartment of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy.
Fabio SirchiaDepartment of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy.ORCID https://orcid.org/0000-0002-4598-2023
Antonella LupariaDepartment of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy.ORCID https://orcid.org/0009-0001-8164-7388
Gianluigi MarsegliaDepartment of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy.
Luca A RamenghiDepartment of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy.
Pasquale StrianoDepartment of Neurosciences (MGP, GB, LAR, PS), Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa; IRCCS Fondazione Mondino (CN, AL), Pavia; IRCCS Istituto Giannina Gaslini (EA, MSV, VC, LAR, PS), Genoa, Italy; Epilepsy Monitoring Unit (CL), Emergency University Hospital Bucharest, Romania; IRCCS Policlinico San Matteo (TF, FS, GM); and Department of Molecular Medicine (FS), University of Pavia, Italy.ORCID https://orcid.org/0000-0002-6065-1476
University of Pavia · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Identifiers

PMID38660576
PMCPMC11042840
OpenAlexW4394993444

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.