AIM: To assess the contribution of MRI and proton spectroscopy (1HMRS) in establishing an etiological diagnosis in children with developmental delay (DD) and to assess whether the chance of finding specific abnormalities correlates with the presence of neurological signs and/or abnormal head circumference (HC). METHODS: Patients were derived from a cohort of 325 consecutive patients with DD receiving structured multidisciplinary evaluation in our centre. Patients had MRI/1HMRS if a diagnosis could not be made clinically and if additional neurological signs and/or abnormal HC and/or an IQ below 50 were present. The MRI protocol consisted of axial IR, T2, FLAIR, sagittal T1 and coronal T2 sequences. Multivoxel 1HMRS was located in a plane superior to the lateral ventricles with voxels in both grey matter and white matter. RESULTS: One hundred and nine children were scanned, 80 of them because of neurological signs and/or abnormal HC. Although minor abnormalities were noted in the vast majority of patients, MRI and/or 1HMRS really contributed to an etiological diagnosis in only 10 (9%) patients, all of whom were scanned because of neurological signs. In these 10 patients, 1HMRS was diagnostic in one patient and of additional value to MRI findings in 3 patients. CONCLUSIONS: MRI and 1HMRS may contribute to the diagnostic evaluation of DD, especially if applied specifically to patients with neurological signs, whereas its role is very limited in children without these signs.
AIM: To assess the contribution of MRI and proton spectroscopy (1HMRS) in establishing an etiological diagnosis in children with developmental delay (DD) and to assess whether the chance of finding specific abnormalities correlates with the presence of neurological signs and/or abnormal head circumference (HC). METHODS:Patients were derived from a cohort of 325 consecutive patients with DD receiving structured multidisciplinary evaluation in our centre. Patients had MRI/1HMRS if a diagnosis could not be made clinically and if additional neurological signs and/or abnormal HC and/or an IQ below 50 were present. The MRI protocol consisted of axial IR, T2, FLAIR, sagittal T1 and coronal T2 sequences. Multivoxel 1HMRS was located in a plane superior to the lateral ventricles with voxels in both grey matter and white matter. RESULTS: One hundred and nine children were scanned, 80 of them because of neurological signs and/or abnormal HC. Although minor abnormalities were noted in the vast majority of patients, MRI and/or 1HMRS really contributed to an etiological diagnosis in only 10 (9%) patients, all of whom were scanned because of neurological signs. In these 10 patients, 1HMRS was diagnostic in one patient and of additional value to MRI findings in 3 patients. CONCLUSIONS: MRI and 1HMRS may contribute to the diagnostic evaluation of DD, especially if applied specifically to patients with neurological signs, whereas its role is very limited in children without these signs.
Authors: Paul D Griffiths; Ruth Batty; Daniel Warren; Anthony Hart; Mark Sharrard; Santosh R Mordekar; Ashok Raghavan; Daniel J A Connolly Journal: Eur Radiol Date: 2011-05-10 Impact factor: 5.315
Authors: Wojciech Wiszniewski; Jill V Hunter; Neil A Hanchard; Jason R Willer; Chad Shaw; Qi Tian; Anna Illner; Xueqing Wang; Sau W Cheung; Ankita Patel; Ian M Campbell; Violet Gelowani; Patricia Hixson; Audrey R Ester; Mahshid S Azamian; Lorraine Potocki; Gladys Zapata; Patricia P Hernandez; Melissa B Ramocki; Regie L P Santos-Cortez; Gao Wang; Michele K York; Monica J Justice; Zili D Chu; Patricia I Bader; Lisa Omo-Griffith; Nirupama S Madduri; Gunter Scharer; Heather P Crawford; Pattamawadee Yanatatsaneejit; Anna Eifert; Jeffery Kerr; Carlos A Bacino; Adiaha I A Franklin; Robin P Goin-Kochel; Gayle Simpson; Ladonna Immken; Muhammad E Haque; Marija Stosic; Misti D Williams; Thomas M Morgan; Sumit Pruthi; Reed Omary; Simeon A Boyadjiev; Kay K Win; Aye Thida; Matthew Hurles; Martin Lloyd Hibberd; Chiea Chuen Khor; Nguyen Van Vinh Chau; Thomas E Gallagher; Apiwat Mutirangura; Pawel Stankiewicz; Arthur L Beaudet; Mirjana Maletic-Savatic; Jill A Rosenfeld; Lisa G Shaffer; Erica E Davis; John W Belmont; Sarah Dunstan; Cameron P Simmons; Penelope E Bonnen; Suzanne M Leal; Nicholas Katsanis; James R Lupski; Seema R Lalani Journal: Am J Hum Genet Date: 2013-06-27 Impact factor: 11.025