Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency.
ALDH5A1
GABA
SSADHD
neurometabolic
severity
validation
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
09 2023
09 2023
Historique:
revised:
16
05
2023
received:
21
03
2023
accepted:
19
05
2023
medline:
8
9
2023
pubmed:
23
5
2023
entrez:
23
5
2023
Statut:
ppublish
Résumé
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder with a variable phenotype and rate of progression. We aimed to develop and validate a clinical severity scoring (CSS) system applicable to the clinical setting and composed of five domains reflecting the principal manifestations of this disorder: cognitive, communication, motor, epilepsy, and psychiatry. A prospectively characterized cohort of 27 SSADHD subjects (55% females, median [IQR] age 9.2 [4.6-16.2] years) who enrolled in the SSADHD Natural History Study were included. The CSS was validated by comparison to an objective severity scoring (OSS) system based on comprehensive neuropsychologic and neurophysiologic assessments, which mirror and complement the domains of the CSS. The total CSS was sex and age-independent, and 80% of its domains lacked interdependence. With increasing age, there was a significant improvement in communication abilities (p = 0.05) and a worsening of epilepsy and psychiatric manifestations (p = 0.004 and p = 0.02, respectively). There was a significant correlation between all the CSS and OSS domain scores, as well as between the total CSS and OSS (R = 0.855, p < 0.001). Additionally, there were no significant demographic or clinical differences in the ratio of individuals in the upper quartile to the lower three quartiles of the CSS and OSS. The SSADHD CSS is validated using objective measures and offers a reliable condition-specific instrument universally applicable in clinical settings. This severity score may be utilized for family and patient counseling, genotype-phenotype correlations, biomarker development, clinical trials, and objective descriptions of the natural history of SSADHD.
Substances chimiques
Succinate-Semialdehyde Dehydrogenase
EC 1.2.1.24
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
992-1003Subventions
Organisme : National Institute of Child Health and Human Development
ID : 1R01HD091142
Informations de copyright
© 2023 SSIEM.
Références
Pearl PL, Parviz M, Vogel K, Schreiber J, Theodore WH, Gibson KM. Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification. Dev Med Child Neurol. 2015;57(7):611-617.
Pearl PL, Gibson KM, Acosta MT, et al. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology. 2003;60(9):1413-1417.
Lee HHC, Pearl PL, Rotenberg A. Enzyme replacement therapy for succinic semialdehyde dehydrogenase deficiency: relevance in γ-aminobutyric acid plasticity. J Child Neurol. 2021;36(13-14):1200-1209.
DiBacco ML, Pop A, Salomons GS, et al. Novel ALDH5A1 variants and genotype: phenotype correlation in SSADH deficiency. Neurology. 2020;95(19):e2675-e2682.
DiBacco ML, Roullet JB, Kapur K, et al. Age-related phenotype and biomarker changes in SSADH deficiency. Ann Clin Transl Neurol. 2019;6(1):114-120.
Martin K, McConnell A, Elsea SH. Assessing prevalence and carrier frequency of succinic semialdehyde dehydrogenase deficiency. J Child Neurol. 2021;36(13-14):1218-1222.
Mullen EM. Mullen Scales of Early Learning: AGS. American Guidance Service Inc; 1995.
Beran TN, Elliott CD. Differential ability scales (2nd ed.). San Antonio, TX: Harcourt assessment. Can J Sch Psychol. 2007;22:128-132.
Wechsler D. Wechsler Abbreviated Scale of Intelligence. APA PsycTests; 1999.
Sparrow SS, Cicchetti DV, Balla DA. Vineland Adaptive Behavior Scales (VABS). NCS Pearson; 2005.
Bzoch KR, League R, Brown V. REEL 3: Receptive-Expressive Emergent Language Test. Pro-Ed; 2003.
Lord C, Rutter M, DiLavore P, et al. Autism Diagnostic Observation Schedule, (ADOS-2). Western Psychological Services; 2012.
Henderson SE, Sugden DA, Barnett AL. The Movement Assessment Battery for Children - 2. Pearson Education, Inc; 2007.
Achenbach TM, Rescorla LA. Manual for the ASEBA School-Age Forms & Profiles: An Integrated System of Multi-informant Assessment. University of Vermont. Research Center for Children, Youth, & Families; 2001:1617.
Achenbach TM, Rescorla LA. Child Behavior Checklist for Ages 1 1/2-5: ASEBA. University of Vermont; 2000.
Achenbach TM, Rescorla L. ASEBA Adult Forms & Profiles: for Ages 18-59: Adult Self-Report and Adult Behavior Checklist. Aseba; 2003.
Hus V, Lord C. The autism diagnostic observation schedule, module 4: revised algorithm and standardized severity scores. J Autism Dev Disord. 2014;44(8):1996-2012.
Chan CJ, Zou G, Wiebe S, Speechley KN. Global assessment of the severity of epilepsy (GASE) scale in children: validity, reliability, responsiveness. Epilepsia. 2015;56(12):1950-1956.
Kwan P, Arzimanoglou A, Berg AT, et al. Definition of drug resistant epilepsy: consensus proposal by the ad hoc task force of the ILAE commission on therapeutic strategies. Epilepsia. 2010;51(6):1069-1077.
Owens JA, Spirito A, McGuinn M. The Children's sleep habits questionnaire (CSHQ): psychometric properties of a survey instrument for school-aged children. Sleep. 2000;23(8):1043-1051.
Pearl PL, Gibson KM, Cortez MA, et al. Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. J Inherit Metab Dis. 2009;32(3):343-352.
Gibson KM, Christensen E, Jakobs C, et al. The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics. 1997;99(4):567-574.
Parviz M, Vogel K, Gibson KM, Pearl PL. Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. J Pediatr Epilepsy. 2014;3(4):217-227.
Malaspina P, Roullet JB, Pearl PL, Ainslie GR, Vogel KR, Gibson KM. Succinic semialdehyde dehydrogenase deficiency (SSADHD): pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism. Neurochem Int. 2016;99:72-84.
Gordon N. Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria). Eur J Paediatr Neurol. 2004;8(5):261-265.
Bose M, Roullet JB, Gibson KM, et al. Development of a quality-of-life survey for patients with succinic semialdehyde dehydrogenase deficiency, a rare disorder of GABA metabolism. J Child Neurol. 2021;36(13-14):1223-1230.
King-Dowling S, Missiuna C, Rodriguez MC, Greenway M, Cairney J. Co-occurring motor, language and emotional-behavioral problems in children 3-6 years of age. Hum Mov Sci. 2015;39:101-108.
Mody M, Shui AM, Nowinski LA, et al. Communication deficits and the motor system: exploring patterns of associations in autism spectrum disorder (ASD). J Autism Dev Disord. 2017;47(1):155-162.
Coleman A, Weir K, Ware RS, Boyd R. Predicting functional communication ability in children with cerebral palsy at school entry. Dev Med Child Neurol. 2015;57(3):279-285.
Tellez-Zenteno JF, Patten SB, Jetté N, Williams J, Wiebe S. Psychiatric comorbidity in epilepsy: a population-based analysis. Epilepsia. 2007;48(12):2336-2344.
Kanner AM. Psychiatric issues in epilepsy: the complex relation of mood, anxiety disorders, and epilepsy. Epilepsy Behav. 2009;15(1):83-87.
American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 5th ed. American Psychiatric Publishing; 2013.
Morgan PT, Pace-Schott EF, Mason GF, et al. Cortical GABA levels in primary insomnia. Sleep. 2012;35(6):807-814.
Harrison NL. Mechanisms of sleep induction by GABA. J Clin Psychiatry. 2007;68(5):6-12.
Corey-Bloom J, Fischer RS, Kim A, et al. Levels of Interleukin-6 in saliva, but not plasma, correlate with clinical metrics in Huntington's disease patients and healthy control subjects. Int J Mol Sci. 2020;21(17):6363.
Doo JG, Kim D, Kim Y, et al. Biomarkers suggesting favorable prognostic outcomes in sudden sensorineural hearing loss. Int J Mol Sci. 2020;21(19):7248.
Boziki M, Sintila SA, Ioannidis P, Grigoriadis N. Biomarkers in rare demyelinating disease of the central nervous system. Int J Mol Sci. 2020;21(21):8409.
Menkovic I, Boutin M, Alayoubi A, Mercier FE, Rivard GÉ, Auray-Blais C. Identification of a reliable biomarker profile for the diagnosis of Gaucher disease type 1 patients using a mass spectrometry-based metabolomic approach. Int J Mol Sci. 2020;21(21):7869.