REFERENCES
1. Schön M, Lapunzina P, Nevado J, et al. Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome. Eur J Med Genet. 2023;66:104754.
2. Bozdagi O, Sakurai T, Papapetrou D, et al. Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication. Mol Autism. 2010;1:15.
3. Bozdagi O, Tavassoli T, Buxbaum JD. Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay. Mol Autism. 2013;4:9.
4. Hodge RD, D’Ercole AJ, O’Kusky JR. Increased expression of insulin-like growth factor-I (IGF-I) during embryonic development produces neocortical overgrowth with differentially greater effects on specific cytoarchitectonic areas and cortical layers. Brain Res Dev Brain Res. 2005;154:227-37.
5. O’Kusky JR, Ye P, D’Ercole AJ. Insulin-like growth factor-I promotes neurogenesis and synaptogenesis in the hippocampal dentate gyrus during postnatal development. J Neurosci. 2000;20:8435-42.
6. Kolevzon A, Bush L, Wang AT, et al. A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome. Mol Autism. 2014;5:54.
7. Réthelyi JM, Vincze K, Schall D, Glennon J, Berkel S. The role of insulin/IGF1 signalling in neurodevelopmental and neuropsychiatric disorders - evidence from human neuronal cell models. Neurosci Biobehav Rev. 2023;153:105330.
8. Moffitt BA, Sarasua SM, Ivankovic D, et al. Stratification of a phelan-McDermid syndrome population based on their response to human growth hormone and insulin-like growth factor. Genes. 2023;14:490.
9. Yuen KCJ, Biller BMK, Radovick S, et al. American association of clinical endocrinologists and American college of endocrinology guidelines for management of growth hormone deficiency in adults and patients transitioning from pediatric to adult care. Endocr Pract. 2019;25:1191-232.
10. Parellada M, Boada L, Moreno C, et al. Specialty care programme for autism spectrum disorders in an urban population: a case-management model for health care delivery in an ASD population. Eur Psychiatry. 2013;28:102-9.
12. Constantino J. Social responsiveness scale (SRS-2). Los Angeles, CA: Western Psychological Services; 2012.
13. Brown EC, Aman MG, Havercamp SM. Factor analysis and norms for parent ratings on the aberrant behavior checklist-community for young people in special education. Res Dev Disabil. 2002;23:45-60.
14. Sparrow SS, Cicchetti DV, Saulnier CA. Vineland adaptive behavior scales, third edition. (Vineland-3)-Complete Kit: PsychCorp; 2016. Available from: https://www.pearsonassessments.com/store/usassessments/en/Store/Professional-Assessments/Behavior/Vineland-Adaptive-Behavior-Scales-%7C-Third-Edition/p/100001622.html [Last accessed on 29 Apr 2024]
15. Lingjaerde O, Ahlfors UG, Bech P, Dencker SJ, Elgen K. The UKU side effect rating scale. A new comprehensive rating scale for psychotropic drugs and a cross-sectional study of side effects in neuroleptic-treated patients. Acta Psychiatr Scand Suppl. 1987;334:1-100.
16. Berven S, Baron M, Deviren V, Glassman S, Bridwell K, Verma K. The assessment of clinically significant differences in treating spinal deformity using the SRS questionnaire: what is the threshold of change that is meaningful to patients? Int J Spine Surg. 2019;13:153-7.
17. Kolevzon A, Breen MS, Siper PM, et al. Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome. Mol Autism. 2022;13:17.
18. Sethuram S, Levy T, Foss-Feig J, et al. A proof-of-concept study of growth hormone in children with Phelan-McDermid syndrome. Mol Autism. 2022;13:6.
19. OCEBM Levels of Evidence Working Group. “The oxford levels of evidence 2”; Oxford centre for evidence-based medicine. 2011. Available from: https://www.cebm.ox.ac.uk/resources/levels-of-evidence/ocebm-levels-of-evidence [Last accessed on 29 Apr 2024].
21. Mirza RD, Guyatt GH. A randomized clinical trial of n-of-1 trials-tribulations of a trial. JAMA Intern Med. 2018;178:1378-9.
22. Schork NJ, Beaulieu-Jones B, Liang WS, Smalley S, Goetz LH. Exploring human biology with N-of-1 clinical trials. Camb Prism Precis Med. 2023;1:e12.
23. Al-Hammadi A, Ruszczak Z, Magariños G, Chu CY, El Dershaby Y, Tarcha N. Intermittent use of biologic agents for the treatment of psoriasis in adults. J Eur Acad Dermatol Venereol. 2021;35:360-7.
24. Srivastava S, Sahin M, Buxbaum JD, et al. Updated consensus guidelines on the management of Phelan-McDermid syndrome. Am J Med Genet A. 2023;191:2015-44.