Evidence map›Paper›PMID 40192101›Full record

ArticleMovement disorders clinical practice2025

STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia.

Diane Pina, Agathe Roubertie, Marie-Aude Spitz, Claudia Ravelli, Nadia Bahi-Buisson, Farha Gheurbi, Marion Buchy, Thomas Loppinet, Nicole Chemaly-Perin, Marie-Christine Nougues and 10 more

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Article in Movement disorders clinical practice, 2025. 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
–field-weighted citation impact
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.

  1. Review
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

20 authors.

Diane PinaDepartment of Pediatric Neurology, Hôpital Femme-Mère-Enfant, Lyon, France.ORCID 0009-0001-8136-0395
Agathe RoubertieDepartment of Pediatric Neurology, CHU Montpellier, INM, INSERM U1298, Montpellier, France.
Marie-Aude SpitzDepartment of Pediatric Neurology, Hôpital de Hautepierre, Strasbourg, France.
Claudia RavelliAP-HP. Sorbonne Université, Service de Neuropédiatrie et Centre de Référence Neurogénétique, Hôpital Armand Trousseau, Paris, France.
Nadia Bahi-BuissonDepartment of Pediatric Neurology, Hôpital Necker-Enfants Malades, Paris, France.
Farha GheurbiDepartment of Pediatric Neurology, Hôpital Femme-Mère-Enfant, Lyon, France.
Marion BuchyDepartment of Pediatric Neurology, Hôpital Femme-Mère-Enfant, Lyon, France.
Thomas LoppinetClinical Investigation Center, Hôpital Louis Pradel, Lyon, France.
Nicole Chemaly-PerinDepartment of Pediatric Neurology, Hôpital Necker-Enfants Malades, Paris, France.
Marie-Christine NouguesAP-HP. Sorbonne Université, Service de Neuropédiatrie et Centre de Référence Neurogénétique, Hôpital Armand Trousseau, Paris, France.
Benedicte HeronAP-HP. Sorbonne Université, Service de Neuropédiatrie et Centre de Référence Neurogénétique, Hôpital Armand Trousseau, Paris, France.
Regis LopezDepartment of Neurology, Hôpital Gui de Chauliac, Montpellier, France.ORCID 0000-0001-8591-0553
Mathieu AnheimDepartment of Neurology, Hôpital de Hautepierre, Strasbourg, France.
Mélanie FradinDepartment of Clinical Genetics, Hôpital Sud, Rennes, France.
Claude CancesDepartment of Pediatric Neurology, Hôpital des Enfants, Toulouse, France.
Justine Avez-CouturierDepartment of Pediatric Neurology, Hôpital Salengro, Lille, France.
Fabienne DalmonDepartment of Pediatry, Hôpital de Chambéry, Chambéry, France.
Gaëtan LescaDepartment of Genetics, Hôpital Femme-Mère-Enfant, Lyon, France.
Vincent Des PortesDepartment of Pediatric Neurology, Hôpital Femme-Mère-Enfant, Lyon, France.
Laurence Lion-FrançoisDepartment of Pediatric Neurology, Hôpital Femme-Mère-Enfant, Lyon, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAlthough initial clinical presentation of hyperekplexia/startle disease is well known, data regarding long-term clinical outcomes is lacking.

objectivesWe provide a long-term evaluation from clinical and pharmacological perspectives, focusing on neurodevelopmental trajectory.

methodsTwenty-eight patients from nine French hospitals were included based on clinical diagnosis criteria. Adaptive abilities were assessed using VABS-II.

resultsVABS-II showed preserved adaptive abilities, except in motor skills. Early development was marked by neurodevelopmental delay in 53% of patients, with 57% developing neurodevelopmental disorders, primarily specific learning disorders. Intellectual disability and/or autism spectrum disorder were present in five patients. Symptoms were most frequent during the first 3 years of life, with persistence of exaggerated startle reflex and falls. One-quarter of the patients discontinued clonazepam. A genetic variant was found in 85% of patients, involving one of the three main genes GLRA1, SLC6A5, or GLRB.

conclusionsOur findings highlight preserved adaptive abilities, frequent neurodevelopmental disorders and long-term pharmacodependence.

Indexed as

HyperekplexiaNeurodevelopmental DisordersStiff-Person SyndromeAdolescentAdultChildChild, PreschoolClonazepamFemaleFranceHumansInfantMaleReceptors, GlycineReflex, StartleYoung AdultClonazepamReceptors, Glycineadaptive abilitiesclonazepamGLRA1GLRBhyperekplexianeurodevelopmentSLC6A5startle diseaseVABS‐II

Identifiers

PMID40192101
PMCPMC12481448

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LicenceCC BY-NC-ND
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Registered trials

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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.