References
- EMHJ. Genetic disorders and congenital abnormalities: strategies for reducing the burden in the Region. World Health Organization - Regional Office for the Eastern Mediterranean. 2022. http://www.emro.who.int/emhj-volume-3-1997/volume-3-issue-1/article18.html
- Balobaid A, Qari A, Al-Zaidan H. Genetic counselors’ scope of practice and challenges in genetic counseling services in Saudi Arabia. Int J Pediatr Adolesc Med. 2016;3(1):1–6.
- El Mouzan MI, Al Salloum AA, Al Herbish AS, et al. Consanguinity and major genetic disorders in saudi children: a community-based cross-sectional study. Ann Saudi Med. 2008;28:169–173.
- Al-Gazali L, Hamamy H, Al-Arrayad S. Genetic disorders in the arab world. BMJ. 2006;333(7573):831–834.
- Panter-Brick C. Parental responses to consanguinity and genetic disease in Saudi Arabia. Soc Sci Med. 1991;33(11):1295–1302.
- الصحة فبو. Ministry Of Health Saudi Arabia. Ministry Of Health Saudi Arabia. 2022. https://www.moh.gov.sa/en/Pages/Default.aspx
- Al SA, El MMI, Al HA, et al. Prevalence of selected congenital anomalies in saudi children: a community-based study. Ann Saudi Med. 2015;35:107–110.
- Sanger WG, Dave B, Stuberg W. Overview of genetics and role of the pediatric physical therapist in the diagnostic process. Pediatr Phys Ther. 2001;13(4):164–168.
- Choo YY, Agarwal P, How CH, et al. Developmental delay: identification and management at primary care level. Singapore Med J. 2019;60(3):119–123.
- The Importance of Early Detection of Genetic Diseases - Abstract - Dubai Medical Journal 2021. Vol. 4, No. 2 - Karger Publishers. https://www.karger.com/Article/Abstract/514215
- Galjaard H. Early diagnosis and prevention of genetic disease. Ann Clin Biochem. 1979;16(6):343–353.
- İpek Ö, Akyolcu Ö, Bayar B. Physiotherapy and rehabilitation in a child with joubert syndrome. Case Rep Pediatr. 2017;2017:e8076494.
- Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103–115.
- Fatema K, Rahman M, Akhter S, et al. Hereditary spastic Paraplegia-Report of 2 cases in a family. Bangladesh J Child Health. 2013;37(2):127–129.
- Alsakhawi RS, Elshafey MA. Effect of core stability exercises and treadmill training on balance in children with down syndrome: randomized controlled trial. Adv Ther. 2019;36(9):2364–2373.
- Arslan FN, Dogan DG, Canaloglu SK, et al. Effects of early physical therapy on motor development in children with down syndrome. North Clin Istanb. 2022;9:156–161.
- Tanpaiboon P. Practical management of lysosomal storage disorders (LSDs). TRD. 2020;4(3-4):133–157.
- Recommendations on screening for developmental delay. CMAJ. 2016;188:579–587.
- Pham R, Mol BW, Gecz J, et al. Definition and diagnosis of cerebral palsy in genetic studies: a systematic review. Dev Med Child Neurol. 2020;62(9):1024–1030.
- Morgan C, Fetters L, Adde L, et al. Early intervention for children aged 0 to 2 years with or at high risk of cerebral palsy: international clinical practice guideline based on systematic reviews. JAMA Pediatr. 2021;175(8):846–858.
- Novak I, Morgan C, Adde L, et al. Early, accurate diagnosis and early intervention in cerebral palsy: advances in diagnosis and treatment. JAMA Pediatr. 2017;171(9):897–907.
- Maitre NL, Burton VJ, Duncan AF, et al. Network implementation of guideline for early detection decreases age at cerebral palsy diagnosis. Pediatrics. 2020;145(5):e20192126.
- Thomas DR. A general inductive approach for analyzing qualitative evaluation data. Am J Eval. 2006;27(2):237–246.
- Ryan F, Coughlan M, Cronin P. Interviewing in qualitative research: the one-to-one interview. Inter J Ther Rehabil. 2009;16(6):309–314.
- Braun V, Clarke V. Using thematic analysis in psychology. Qual Res Psychol. 2006;3(2):77–101.
- Szedlak C, Smith M, Day M, et al. Effective behaviours of strength and conditioning coaches as perceived by athletes. 2015.
- Rambaree K. Three methods of qualitative data analysis using ATLAS.ti: ‘A posse ad esse’. 2014. https://depositonce.tu-berlin.de/handle/11303/5137
- Noble H, Smith J. Issues of validity and reliability in qualitative research. Evid Based Nurs. 2015;18(2):34–35.
- Dodgson JE. Reflexivity in qualitative research. J Hum Lact. 2019;35(2):220–222.
- O’Connor C, Joffe H. Intercoder reliability in qualitative research: debates and practical guidelines. Int J Qual Methods. 2020;19:160940691989922. 1609406919899220.
- Bizzari S, Qari A, Balobaid A, et al. Genetic disorders in Saudi Arabia: A CTGA perspective. 2018. https://www.semanticscholar.org/paper/Genetic-Disorders-in-Saudi-Arabia%3A-A-CTGA-Bizzari-Qari/e63d9e547d6afad9124d05c084871b4cf4ab5d29
- Solomon BD, Muenke M. When to suspect a genetic syndrome. Am Fam Physician. 2012;86(9):826–833.
- Alliance G. Health D of CD of diagnosis of a genetic disease. Understanding genetics: a district of columbia guide for patients and health professionals. Genetic alliance. 2010. https://www.ncbi.nlm.nih.gov/books/NBK132142/
- Jaffe A, Zurynski Y, Beville L, et al. Call for a national plan for rare diseases. J Paediatr Child Health. 2010;46(1-2):2–4.
- Lipkin PH, Macias MM, Baer Chen B, et al. Trends in pediatricians’ developmental screening: 2002–2016. Pediatrics. 2020;145(4):e20190851.
- Baars MJH, Henneman L, Ten Kate LP. Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: a global problem. Genet Med. 2005;7(9):605–610.
- Cohen D, Pichard N, Tordjman S, et al. Specific genetic disorders and autism: clinical contribution towards their identification. J Autism Dev Disord. 2005;35(1):103–116.
- Advanced Maternal Age (Geriatric Pregnancy): definition & Risks. Cleveland Clinic. 2022. https://my.clevelandclinic.org/health/diseases/22438-advanced-maternal-age
- Ben-Omran T, Al Ghanim K, Yavarna T, et al. Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar. Mol Genet Genomic Med. 2020;8(1):e1051.
- How do health care providers diagnose Down syndrome? 2022. https://www.nichd.nih.gov/health/topics/down/conditioninfo/diagnosis
- Screening for Fetal Chromosomal Abnormalities [Internet]. 2022. https://www.acog.org/en/clinical/clinical-guidance/practice-bulletin/articles/2020/10/screening-for-fetal-chromosomal-abnormalities
- Cunniff C, American Academy of Pediatrics Committee on Genetics. Prenatal screening and diagnosis for pediatricians. Pediatrics. 2004;114(3):889–894.
- Cunniff C, Hudgins L. Prenatal genetic screening and diagnosis for pediatricians. Curr Opin Pediatr. 2010;22(6):809–813.
- Wieacker P, Steinhard J. The prenatal diagnosis of genetic diseases. Dtsch Arztebl Int. 2010;107:857–862.
- Posey LL, Thistle PD. Genetic testing and genetic discrimination: public policy when insurance becomes “too expensive. J Health Econ. 2021;77:102441.
- Rights of People with Disabilities in the Kingdom of Saudi Arabia. 2022. https://www.my.gov.sa/wps/portal/snp/careaboutyou/RightsOfPeopleWithDisabilities/!ut/p/z0/04_Sj9CPykssy0xPLMnMz0vMAfIjo8zivQN9DDycTAz9LZxCHQ0CA91MQyzMgo0NDEz1g1Pz9AuyHRUB3hwS1Q!!/
- Hall JG, Powers EK, Mcllvaine RT, et al. The frequency and financial burden of genetic disease in a pediatric hospital. Am J Med Genet. 1978;1(4):417–436.
- Carnevale A, Hernández M, Reyes R, et al. The frequency and economic burden of genetic disease in a pediatric hospital in Mexico city. Am J Med Genet. 1985;20(4):665–675.
- Boycott KM, Ardigó D. Addressing challenges in the diagnosis and treatment of rare genetic diseases. Nat Rev Drug Discov. 2018;17(3):151–152.
- Rath A, Salamon V, Peixoto S, et al. A systematic literature review of evidence-based clinical practice for rare diseases: what are the perceived and real barriers for improving the evidence and how can they be overcome? Trials. 2017;18(1):556.
- Central Hypotonia | AACPDM. American Academy for Cerebral Palsy and Developmental Medicine. 2023. https://www.aacpdm.org/
- Al Refaei A, Ashoor A, Alzahrani I, et al. Knowledge and awareness of genetic diseases among residents of the Western region of Saudi Arabia. J Biochem Clin Genet. 2021;2:1–8.
- Palacios-Ceña D, Famoso-Pérez P, Salom-Moreno J, et al. “Living an obstacle course”: a qualitative study examining the experiences of caregivers of children with rett syndrome. IJERPH. 2018;16(1):41.
- Siddiq S, Wilson BJ, Graham ID, et al. Experiences of caregivers of children with inherited metabolic diseases: a qualitative study. Orphanet J Rare Dis. 2016;11(1):168.
- Anderson C. Presenting and evaluating qualitative research. Am J Pharm Educ. 2010;74(8):141.