Impairment of motor skills in children with achondroplasia-usefulness of brain and cranio-cervical junction evaluation by quantitative magnetic resonance imaging: a case-control study.


Journal

Acta radiologica (Stockholm, Sweden : 1987)
ISSN: 1600-0455
Titre abrégé: Acta Radiol
Pays: England
ID NLM: 8706123

Informations de publication

Date de publication:
Dec 2022
Historique:
pubmed: 16 11 2021
medline: 11 11 2022
entrez: 15 11 2021
Statut: ppublish

Résumé

Most infants and children with achondroplasia show delayed motor skill development; however, some patients may have clinical consequences related to cranio-cervical junction stenosis and compression. To assess, using brain magnetic resonance imaging (MRI), quantitative variables linked to neuromotor impairment in achondroplasic children. In total, 24 achondroplasic children underwent pediatric neurological assessment and were grouped in two cohorts according to relevant motor skill impairment. Achondroplasic children with (n=12) and without (n=12) motor symptoms were identified, and brain MRI scans were quantitatively evaluated. 3D fast spoiled gradient echo T1-weighted images were used to assess: supratentorial intracranial volumes (SICV); supratentorial intracranial brain volume (SICBV); SICV/SICBV ratio; posterior cranial fossa volume (PCFV); posterior cranial fossa brain volume (PCBFV); PCFV/PCFBV ratio; ventricular and extra-ventricular cerebrospinal fluid (CSF) volumes; foramen magnum (FM) area; and jugular foramina (JF) areas. In both groups, SICV/SICBV ratio, supratentorial ventricular and extra-ventricular space volumes were increased while SICBV was increased only in the asymptomatic group ( Evaluation of the FM area together with infratentorial ventricular and extra-ventricular space volume reduction may be helpful in differentiating patients at risk of developing motor skill impairment. Further investigation is needed to better understand the temporal profile between imaging and motor function in order to propose possible personalized surgical treatment.

Sections du résumé

BACKGROUND BACKGROUND
Most infants and children with achondroplasia show delayed motor skill development; however, some patients may have clinical consequences related to cranio-cervical junction stenosis and compression.
PURPOSE OBJECTIVE
To assess, using brain magnetic resonance imaging (MRI), quantitative variables linked to neuromotor impairment in achondroplasic children.
MATERIAL AND METHODS METHODS
In total, 24 achondroplasic children underwent pediatric neurological assessment and were grouped in two cohorts according to relevant motor skill impairment. Achondroplasic children with (n=12) and without (n=12) motor symptoms were identified, and brain MRI scans were quantitatively evaluated. 3D fast spoiled gradient echo T1-weighted images were used to assess: supratentorial intracranial volumes (SICV); supratentorial intracranial brain volume (SICBV); SICV/SICBV ratio; posterior cranial fossa volume (PCFV); posterior cranial fossa brain volume (PCBFV); PCFV/PCFBV ratio; ventricular and extra-ventricular cerebrospinal fluid (CSF) volumes; foramen magnum (FM) area; and jugular foramina (JF) areas.
RESULTS RESULTS
In both groups, SICV/SICBV ratio, supratentorial ventricular and extra-ventricular space volumes were increased while SICBV was increased only in the asymptomatic group (
CONCLUSION CONCLUSIONS
Evaluation of the FM area together with infratentorial ventricular and extra-ventricular space volume reduction may be helpful in differentiating patients at risk of developing motor skill impairment. Further investigation is needed to better understand the temporal profile between imaging and motor function in order to propose possible personalized surgical treatment.

Identifiants

pubmed: 34779271
doi: 10.1177/02841851211055821
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1703-1711

Auteurs

Rosalinda Calandrelli (R)

Institute of Radiology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Fabio Pilato (F)

Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, 9317Campus Bio-Medico University, Rome, Italy.

Luca Massimi (L)

Pediatric Neurosurgery, Neurosurgery Department, 18654Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Catholic University of Sacred Heart, Rome, Italy.

Roberta Onesimo (R)

Rare Diseases Unit, 18654Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.
Pediatric Unit, 18654Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.

Gabriella D'Apolito (G)

Institute of Radiology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Lorenzo Tenore (L)

Institute of Radiology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Domenico Romeo (D)

Pediatric Neurology Unit, 18654Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
Pediatric Neurology Unit, Università Cattolica Del Sacro Cuore, Rome, Italy.

Chiara Leoni (C)

Rare Diseases Unit, 18654Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.
Pediatric Unit, 18654Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.

Giuseppe Zampino (G)

Rare Diseases Unit, 18654Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.
Pediatric Unit, 18654Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy.
Catholic University of Sacred Heart, Rome, Italy.

Cesare Colosimo (C)

Institute of Radiology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Catholic University of Sacred Heart, Rome, Italy.

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Classifications MeSH