Factors Responsible for the Diagnostic Odyssey and Counseling for Children with Intellectual Disability

Sreelatha Komandur; Beulah Thullimelli; Aashna Nanda; Namratha Gangidi; Venkatesh Pochaboina; Shyamson Kandula; Qurratulain Hasan

doi:doi:10.11648/j.ijgg.20261402.11

Research Article |

| Peer-Reviewed

Factors Responsible for the Diagnostic Odyssey and Counseling for Children with Intellectual Disability

Sreelatha Komandur^*

, Beulah Thullimelli

, Aashna Nanda, Namratha Gangidi

, Venkatesh Pochaboina

, Shyamson Kandula, Qurratulain Hasan

Published in International Journal of Genetics and Genomics (Volume 14, Issue 2)

Received: 6 March 2026 Accepted: 19 March 2026 Published: 29 April 2026

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Abstract

Intellectual disability (ID), a widely prevalent condition is a neurodevelopmental condition which encompasses diverse causes, both genetic and non-genetic. They most commonly show symptoms of delayed milestones, limited motor skills, unwarranted emotional changes, difficulty in learning new skills and poor memory. Genetic causes usually accounting up to 50%, most frequently includes chromosomal (structural and numerical), monogenic and de novo variants. Advancements in genetic testing options have enabled early diagnosis, minimizing complications and preventing further hereditary transmission. Genetic tests, such as karyotyping, chromosomal microarray (CMA), Next-Generation Sequencing (NGS) and various molecular assays like Multiplex Ligation-dependent Probe Amplification (MLPA), Methylation Specific polymerase chain reaction (MS-PCR) are available in contemporary healthcare settings for timely diagnosis. This study focuses on individuals with Intellectual disability (ID), who require support for diagnosis and rehabilitation and are visiting the National Institute for the Empowerment of Persons with Intellectual Disabilities (NIEPID) for therapy and are referred for genetic testing and genetic counseling. The paper also analyzes the reasons for diagnostic delays and gaps in genetic counseling, affecting the treatment and management. It also advocates for collective efforts to enhance awareness, potentially reduce costs and improve accessibility for testing, paving the way for a future grounded in precise management and preventative medicine.

Published in	International Journal of Genetics and Genomics (Volume 14, Issue 2)
DOI	10.11648/j.ijgg.20261402.11
Page(s)	45-49
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2026. Published by Science Publishing Group

Keywords

Developmental Delay, Karyotyping, Chromosomal Microarray, Ngs, Genetic Testing

1. Introduction

Intellectual disability (ID) is a neurodevelopmental disorder characterized by significant limitations in both intellectual functioning and adaptive behavior

[1]

. In children, it may present as delayed milestones, limited motor skills, unwarranted emotional changes, difficulty in learning new skills and poor memory

[2]

. Individuals who progress into adulthood with ID show characteristics of the causative disease and lower adaptive skills, higher incidence of psychiatric illnesses and poor choices in health behavior

[3, 4]

. ID estimates in India range between 1-3.2% with a male to female ratio of 1.6: 1

[6, 7]

. The clear etiology of ID is not known but is dived into genetic and environmental causes

[8]

. Many studies have identified various causes for ID, of which genetic causes account to upto 50%

[9]

. The heterogeneous nature of ID makes it challenging to identify the underlying causes, but with advancements in testing options and relatively lower testing costs, early diagnosis of genetic diseases is possible to prevent the complications and their inheritance in future generations. Several tests including Newborn Screening, karyotyping, Chromosomal Microarray (CMA), Multiplex ligation-dependent probe amplification (MLPA), Methylation Specific Polymerase Chain Reaction (MS-PCR) and next-generation sequencing (NGS) are currently available for identifying the cause of ID. However, multiple studies have shown that many children with ID reach adulthood without proper diagnosis despite evidence proving that early intervention can reduce complications

[5]

. The Diagnostic Odyssey, which is the period between the first detection of symptoms to the point of final diagnosis, is often prolonged due to delay in testing or incorrect and unnecessary testing.

In this paper, we tried to identify the most appropriate diagnostic tests for the children with ID and analyzed the possible reasons responsible for the delay in diagnosis and counseling in a low resource country like India, with a varied range of socio-cultural issues and different levels of literacy.

2. Methodology

The study included pediatric cases referred to the Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, and to the Genetics Counseling unit of the National Institute for Empowerment of Persons with Intellectual Disabilities (NIEPID). The inclusion criteria encompassed cases with delayed milestones, neurobehavioral symptoms, low IQ with or without seizures. All the cases were assessed by a Genetic Counselor in a face to face interview with parent/gaurdian, who then documented demographic details, clinical and family history along with investigations carried out, previous visits to other centers or doctors and the current concerns of the families. A 3-generation pedigree was collected from each of them. Appropriate genetic diagnostic tests were recommended and reasons for acceptance or rejection were noted.

3. Results

The data was collected from 200 ID pediatric patients. Out of these, 125 (62.5%) were males and 75 (37.5%) were females. Their age range was 6 months to 18 years and maximum patients 114/200 (57%) were in the age group of 2-5 years Table 1. A total of 50/200 (25%) cases had a diagnosis, this included 22/50 (44%) of males and 28/50 (56%) of females. Among the diagnosed children that underwent the recommended genetic tests, a total of 44 were under the age of 5 years, 4 between 5 - 10 years of age and 2 children were above 10 years age Table 1.

Table 1. Age and gender distribution in the tests performed.

Age (in years)	Number	Diagnosed	Males	Males Tested	Females	Females Tested
<1	5 (2.5%)	1 (20.0%)	4 (3.2%)	1 (25.0%)	1 (1.3%)	0
1-2	63 (31.5%)	28 (44.4%)	38 (30.4%)	12 (31.6%)	25 (33.3%)	16 (64.0%)
2-5	114 (57%)	15 (13.15%)	76 (60.8%)	6 (7.9%)	38 (50.6%)	9 (23.7%)
6-10	13 (6.5%)	4 (30.76%)	6 (4.8%)	2 (33.3%)	7 (9.3%)	2 (28.6%)
>10	5 (2.5%)	2 (40%)	1 (0.8%)	1 (100%)	4 (5.3%)	1 (25%)
	200	50 (25.0%)		22 (44%)		28 (56%)

The most common referral reasons for evaluation included delayed milestones, behavioral issues with or without delayed speech, seizures and syndromic features Figure 1.

A total of 160 cases were recommended some form of genetic testing, it was observed that the uptake for karyotyping was highest (8/8), while the most frequently advised test was NGS based exome sequencing, the other tests were recommended less frequently Table 2. The uptake for CMA and MLPA was about the same, while that of NGS was 21.5% Table 2. NGS uptake was higher in older age group (> 6 years) followed by children below 1 year Table 3.

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Figure 1. Percentages of different neurological symptoms.

Table 2. Data showing different types of genetic tests carried out.

Genetic test	Referred	Tested	Diagnosed	Undiagnosed
Karyotype	08	08 (100%)	08	0
MS-PCR	22	0 (0%)	0	22
NGS	93	20 (21.5%)	18	74
CMA	27	03 (11.1%)	01	26
MLPA	10	01 (10%)	01	09

Table 3. Percentages of NGS done in different age categories.

Age in years	Referred for NGS	Tested	Diagnosed	Undiagnosed
<1	8	5 (62.5%)	5	3
1-2	25	6 (24%)	6	19
2-5	55	5 (9.1%)	4	51
6-10	4	3 (75%)	3	1
>10	1	1 (100%)	1	0

All the cases diagnosed with karyotyping were those of Trisomy 21, CMA helped diagnose one case of Phelan-McDermid Syndrome (22q13.3 del), one was diagnosed as Guillian Barre based on antibodies and NGS diagnosed 18 cases.

4. Discussion

Intellectual disability, whether evident from birth or symptoms emerging progressively may be more widespread in our country than currently acknowledged. Fortunately, contemporary multispecialty hospitals and institutions offer various genetic tests capable of diagnosing the disorders. These tests, complementing clinical assessments, provide more precise diagnoses leading to appropriate management and counseling. In addition, advances in prenatal testing can offer preventive measures within the family

[9]	Maia N, Nabais Sá MJ, Melo-Pires M, de Brouwer APM, Jorge P. Intellectual disability genomics: current state, pitfalls and future challenges. BMC Genomics. 2021 Dec 20; 22(1): 909. https://doi.org/10.1186/s12864-021-08227-4 View Article
[10]	Vissers LE, Gilissen C, Veltman JA. Genetic studies in intellectual disability and related disorders. Nat Rev Genet. 2016 Jan; 17(1): 9-18. https://doi.org/10.1038/nrg3999 View Article
[11]	Kandamurugu Manickam, Monica R. McClain, Laurie A. Demmer, Sawona Biswas, Hutton M. Kearney, Jennifer Malinowski, Lauren J. Massingham, Danny Miller, Timothy W. Yu, Fuki M. Hisama and ACMG Board of Directors. Genetics in Medicine (2021) 23: 2029–2037. https://doi.org/10.1038/s41436-021-01242-6 View Article
[12]	Malinowski J, Miller DT, Demmer L, Gannon J, Pereira EM, Schroeder MC, Scheuner MT, Tsai AC, Hickey SE, Shen J; ACMG Professional Practice and Guidelines Committee. Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability. Genet Med. 2020 Jun; 22(6): 986-1004. https://doi.org/10.1038/s41436-020-0771-z View Article
[13]	Cole JJ, Sellitto AD, Baratta LR, Huecker JB, Balls-Berry JJE, Gurnett CA. Social Determinants of Genetics Referral and Completion Rates Among Pediatric Neurology Patients. Pediatr Neurol. 2025 Apr; 165: 78-86. https://doi.org/10.1016/j.pediatrneurol.2025.01.018 View Article
[14]	Ko MH, Chen HJ. Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities-A Narrative Review. Children (Basel). 2023 Mar 3; 10(3): 501. https://doi.org/10.3390/children10030501 View Article
[15]	Pande S, Majethia P, Nair K, Rao LP, Mascarenhas S, Kaur N, do Rosario MC, Neethukrishna K, Chaurasia A, Hunakunti B, Jadhav N, Xavier S, Kumar J, Bhat V, Bhavani GS, Narayanan DL, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Aroor S, Bhat Y R, Lewis LE, Sharma S, Bajaj S, Sankhyan N, Siddiqui S, Nayak SS, Bielas S, Girisha KM, Shukla A. De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India. Eur J Hum Genet. 2024 Oct; 32(10): 1291-1298. https://doi.org/10.1038/s41431-023-01513-7 View Article

[9-15]

Despite these advancements, only 25% of cases had a diagnosis, this is partly because of a low uptake of recommended tests except karyotyping, which clearly indicates that the cost of the tests was a prohibiting factor. The fact that MS-PCR test was not taken up may be because that it is not offered by most labs in India despite being a relatively cheaper test, effort has to be made in indicating to labs that this test needs to be included and clinicians made aware of its availability.

Common presenting symptoms included developmental delay, dysmorphology and neurobehavioral issues. Notably, cases with behavioral issues were less likely to undergo genetic testing. Gender disparity was negligible among tested children, and those below 5 years of age were more frequently brought in for testing, as compared to older children (>6 years), this may be because most of the families opt for testing when their reproductive life is not complete and are taking decisions about subsequent pregnancies. Testing rates significantly decreased among children older than 10, possibly due to previous exhaustive testing attempts and inconclusive results or the parents have decided not to plan further pregnancies.

The reasons for diagnostic delay apparent from face to face interview indicated: (i) lack of knowledge regarding appropriate testing amongst clinicians (ii) late referral to a Genetic counselor or Clinical Geneticist (iii) Genetic test costs not covered in government programs for individuals belonging to low socio-economic groups (iv) unavailability of genetic tests or atleast facility of sample collection within the same institution (ie NIEPID). Results from this analysis advocates for collective efforts to enhance awareness regarding the role of genetics in ID, increase the number of trained/certified genetic counselors who can be hired by organizations dealing with ID like NIEPID, pediatric hospitals, Neurological clinics, special schools and primary health centers. Government should potentially subsidize/reduce costs and improve accessibility for genetic testing, paving the way for a future grounded in precise management and preventative medicine.

Abbreviations

NIEPID	National Institute for the Empowerment of Persons with Intellectual Disabilities
ID	Intellectual Disability
NGS	Next Generation Sequencing
CMA	Chromosomal Microarray
MLPA	Multiple Ligation-dependent Probe Ampification

Acknowledgments

National Institute for the Empowerment of Persons with Intellectual Disabilities, Manovikasnagar, Secunderabad, Telangana India is acknowledged for allowing to include patients referred here for the study.

Author Contributions

Sreelatha Komandur: Conceptualization, Resources

Beulah Thulimelli: Resources

Ashna Nanda: Resources

Namratha Gangidi: Resources

Venkatesh Pochaboina: Resources

Shyamson Kandula: Resources

Qurratulain Hasan: Conceptualization, Resources

Conflicts of Interest

The study has no conflict of interest.

References

[1]	American Psychiatry Association (n.d.). What is Intellectual Disability? https://www.Psychiatry.org/
[2]	Pratt, H. D., & Greydanus, D. E. (2007). Intellectual Disability (Mental Retardation) in Children and Adolescents. Primary Care: Clinics in Office Practice, 34(2), 375–386. https://doi.org/10.1016/j.pop.2007.04.010
[3]	Totsika V, Felce D. Kerr M and Hastings R P (2010). Behavior Problems, Psychiatric Symptoms, and Quality of Life for Older Adults With Intellectual Disability With and Without Autism. Journal of Autism and Developmental Disorders, 40(10), 1171–1178. https://doi.org/10.1007/s10803-010-0975-1
[4]	McGuire B E, Daly P and Smyth F (2007). Lifestyle and health behaviors of adults with an intellectual disability. Journal of Intellectual Disability Research, 51(7), 497–510. https://doi.org/10.1111/j.1365-2788.2006.00915.x
[5]	Leite AJDC, Pinto IP, Leijsten N, et al. Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil. PLoS One. 2022; 17(4): e0266493. https://doi.org/10.1371/journal.pone.0266493
[6]	Paul, Swamidhas Sudhakar Russell et al. Prevalence of intellectual disability in India: A meta-analysis World J Clin Pediatr 2022 March 9; 11(2): 206-214. https://doi.org/10.5409/wjcp.v11.i2.206
[7]	Leonard H, Wen X. The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev. 2002; 8(3): 117–34. https://doi.org/10.1002/mrdd.10031
[8]	Lee K, Cascella M, Marwaha R. Intellectual Disability. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 https://www.ncbi.nlm.nih.gov/books/NBK547654/
[9]	Maia N, Nabais Sá MJ, Melo-Pires M, de Brouwer APM, Jorge P. Intellectual disability genomics: current state, pitfalls and future challenges. BMC Genomics. 2021 Dec 20; 22(1): 909. https://doi.org/10.1186/s12864-021-08227-4
[10]	Vissers LE, Gilissen C, Veltman JA. Genetic studies in intellectual disability and related disorders. Nat Rev Genet. 2016 Jan; 17(1): 9-18. https://doi.org/10.1038/nrg3999
[11]	Kandamurugu Manickam, Monica R. McClain, Laurie A. Demmer, Sawona Biswas, Hutton M. Kearney, Jennifer Malinowski, Lauren J. Massingham, Danny Miller, Timothy W. Yu, Fuki M. Hisama and ACMG Board of Directors. Genetics in Medicine (2021) 23: 2029–2037. https://doi.org/10.1038/s41436-021-01242-6
[12]	Malinowski J, Miller DT, Demmer L, Gannon J, Pereira EM, Schroeder MC, Scheuner MT, Tsai AC, Hickey SE, Shen J; ACMG Professional Practice and Guidelines Committee. Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability. Genet Med. 2020 Jun; 22(6): 986-1004. https://doi.org/10.1038/s41436-020-0771-z
[13]	Cole JJ, Sellitto AD, Baratta LR, Huecker JB, Balls-Berry JJE, Gurnett CA. Social Determinants of Genetics Referral and Completion Rates Among Pediatric Neurology Patients. Pediatr Neurol. 2025 Apr; 165: 78-86. https://doi.org/10.1016/j.pediatrneurol.2025.01.018
[14]	Ko MH, Chen HJ. Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities-A Narrative Review. Children (Basel). 2023 Mar 3; 10(3): 501. https://doi.org/10.3390/children10030501
[15]	Pande S, Majethia P, Nair K, Rao LP, Mascarenhas S, Kaur N, do Rosario MC, Neethukrishna K, Chaurasia A, Hunakunti B, Jadhav N, Xavier S, Kumar J, Bhat V, Bhavani GS, Narayanan DL, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Aroor S, Bhat Y R, Lewis LE, Sharma S, Bajaj S, Sankhyan N, Siddiqui S, Nayak SS, Bielas S, Girisha KM, Shukla A. De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India. Eur J Hum Genet. 2024 Oct; 32(10): 1291-1298. https://doi.org/10.1038/s41431-023-01513-7

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APA Style

Komandur, S., Thullimelli, B., Nanda, A., Gangidi, N., Pochaboina, V., et al. (2026). Factors Responsible for the Diagnostic Odyssey and Counseling for Children with Intellectual Disability. International Journal of Genetics and Genomics, 14(2), 45-49. https://doi.org/10.11648/j.ijgg.20261402.11

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ACS Style

Komandur, S.; Thullimelli, B.; Nanda, A.; Gangidi, N.; Pochaboina, V., et al. Factors Responsible for the Diagnostic Odyssey and Counseling for Children with Intellectual Disability. Int. J. Genet. Genomics 2026, 14(2), 45-49. doi: 10.11648/j.ijgg.20261402.11

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AMA Style

Komandur S, Thullimelli B, Nanda A, Gangidi N, Pochaboina V, et al. Factors Responsible for the Diagnostic Odyssey and Counseling for Children with Intellectual Disability. Int J Genet Genomics. 2026;14(2):45-49. doi: 10.11648/j.ijgg.20261402.11

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@article{10.11648/j.ijgg.20261402.11,
  author = {Sreelatha Komandur and Beulah Thullimelli and Aashna Nanda and Namratha Gangidi and Venkatesh Pochaboina and Shyamson Kandula and Qurratulain Hasan},
  title = {Factors Responsible for the Diagnostic Odyssey and Counseling for Children with Intellectual Disability},
  journal = {International Journal of Genetics and Genomics},
  volume = {14},
  number = {2},
  pages = {45-49},
  doi = {10.11648/j.ijgg.20261402.11},
  url = {https://doi.org/10.11648/j.ijgg.20261402.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20261402.11},
  abstract = {Intellectual disability (ID), a widely prevalent condition is a neurodevelopmental condition which encompasses diverse causes, both genetic and non-genetic. They most commonly show symptoms of delayed milestones, limited motor skills, unwarranted emotional changes, difficulty in learning new skills and poor memory. Genetic causes usually accounting up to 50%, most frequently includes chromosomal (structural and numerical), monogenic and de novo variants. Advancements in genetic testing options have enabled early diagnosis, minimizing complications and preventing further hereditary transmission. Genetic tests, such as karyotyping, chromosomal microarray (CMA), Next-Generation Sequencing (NGS) and various molecular assays like Multiplex Ligation-dependent Probe Amplification (MLPA), Methylation Specific polymerase chain reaction (MS-PCR) are available in contemporary healthcare settings for timely diagnosis. This study focuses on individuals with Intellectual disability (ID), who require support for diagnosis and rehabilitation and are visiting the National Institute for the Empowerment of Persons with Intellectual Disabilities (NIEPID) for therapy and are referred for genetic testing and genetic counseling. The paper also analyzes the reasons for diagnostic delays and gaps in genetic counseling, affecting the treatment and management. It also advocates for collective efforts to enhance awareness, potentially reduce costs and improve accessibility for testing, paving the way for a future grounded in precise management and preventative medicine.},
 year = {2026}
}

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TY  - JOUR
T1  - Factors Responsible for the Diagnostic Odyssey and Counseling for Children with Intellectual Disability
AU  - Sreelatha Komandur
AU  - Beulah Thullimelli
AU  - Aashna Nanda
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AU  - Venkatesh Pochaboina
AU  - Shyamson Kandula
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DO  - 10.11648/j.ijgg.20261402.11
T2  - International Journal of Genetics and Genomics
JF  - International Journal of Genetics and Genomics
JO  - International Journal of Genetics and Genomics
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PB  - Science Publishing Group
SN  - 2376-7359
UR  - https://doi.org/10.11648/j.ijgg.20261402.11
AB  - Intellectual disability (ID), a widely prevalent condition is a neurodevelopmental condition which encompasses diverse causes, both genetic and non-genetic. They most commonly show symptoms of delayed milestones, limited motor skills, unwarranted emotional changes, difficulty in learning new skills and poor memory. Genetic causes usually accounting up to 50%, most frequently includes chromosomal (structural and numerical), monogenic and de novo variants. Advancements in genetic testing options have enabled early diagnosis, minimizing complications and preventing further hereditary transmission. Genetic tests, such as karyotyping, chromosomal microarray (CMA), Next-Generation Sequencing (NGS) and various molecular assays like Multiplex Ligation-dependent Probe Amplification (MLPA), Methylation Specific polymerase chain reaction (MS-PCR) are available in contemporary healthcare settings for timely diagnosis. This study focuses on individuals with Intellectual disability (ID), who require support for diagnosis and rehabilitation and are visiting the National Institute for the Empowerment of Persons with Intellectual Disabilities (NIEPID) for therapy and are referred for genetic testing and genetic counseling. The paper also analyzes the reasons for diagnostic delays and gaps in genetic counseling, affecting the treatment and management. It also advocates for collective efforts to enhance awareness, potentially reduce costs and improve accessibility for testing, paving the way for a future grounded in precise management and preventative medicine.
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Author Information

Sreelatha Komandur

Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, India

Contact Email

http://orcid.org/0009-0005-6661-2653
Beulah Thullimelli

Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, India

http://orcid.org/0009-0000-8103-3493
Aashna Nanda

Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, India
Namratha Gangidi

Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, India

http://orcid.org/0009-0000-6091-390X
Venkatesh Pochaboina

Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, India

http://orcid.org/0009-0000-3422-8220
Shyamson Kandula

Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, India
Qurratulain Hasan

Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, India

http://orcid.org/0000-0002-6162-6379

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Figure 1

Figure 1. Percentages of different neurological symptoms.

Plain Text BibTeX RIS

APA Style

Komandur, S., Thullimelli, B., Nanda, A., Gangidi, N., Pochaboina, V., et al. (2026). Factors Responsible for the Diagnostic Odyssey and Counseling for Children with Intellectual Disability. International Journal of Genetics and Genomics, 14(2), 45-49. https://doi.org/10.11648/j.ijgg.20261402.11

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ACS Style

Komandur, S.; Thullimelli, B.; Nanda, A.; Gangidi, N.; Pochaboina, V., et al. Factors Responsible for the Diagnostic Odyssey and Counseling for Children with Intellectual Disability. Int. J. Genet. Genomics 2026, 14(2), 45-49. doi: 10.11648/j.ijgg.20261402.11

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AMA Style

Komandur S, Thullimelli B, Nanda A, Gangidi N, Pochaboina V, et al. Factors Responsible for the Diagnostic Odyssey and Counseling for Children with Intellectual Disability. Int J Genet Genomics. 2026;14(2):45-49. doi: 10.11648/j.ijgg.20261402.11

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@article{10.11648/j.ijgg.20261402.11,
  author = {Sreelatha Komandur and Beulah Thullimelli and Aashna Nanda and Namratha Gangidi and Venkatesh Pochaboina and Shyamson Kandula and Qurratulain Hasan},
  title = {Factors Responsible for the Diagnostic Odyssey and Counseling for Children with Intellectual Disability},
  journal = {International Journal of Genetics and Genomics},
  volume = {14},
  number = {2},
  pages = {45-49},
  doi = {10.11648/j.ijgg.20261402.11},
  url = {https://doi.org/10.11648/j.ijgg.20261402.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20261402.11},
  abstract = {Intellectual disability (ID), a widely prevalent condition is a neurodevelopmental condition which encompasses diverse causes, both genetic and non-genetic. They most commonly show symptoms of delayed milestones, limited motor skills, unwarranted emotional changes, difficulty in learning new skills and poor memory. Genetic causes usually accounting up to 50%, most frequently includes chromosomal (structural and numerical), monogenic and de novo variants. Advancements in genetic testing options have enabled early diagnosis, minimizing complications and preventing further hereditary transmission. Genetic tests, such as karyotyping, chromosomal microarray (CMA), Next-Generation Sequencing (NGS) and various molecular assays like Multiplex Ligation-dependent Probe Amplification (MLPA), Methylation Specific polymerase chain reaction (MS-PCR) are available in contemporary healthcare settings for timely diagnosis. This study focuses on individuals with Intellectual disability (ID), who require support for diagnosis and rehabilitation and are visiting the National Institute for the Empowerment of Persons with Intellectual Disabilities (NIEPID) for therapy and are referred for genetic testing and genetic counseling. The paper also analyzes the reasons for diagnostic delays and gaps in genetic counseling, affecting the treatment and management. It also advocates for collective efforts to enhance awareness, potentially reduce costs and improve accessibility for testing, paving the way for a future grounded in precise management and preventative medicine.},
 year = {2026}
}

Copy | Download

TY  - JOUR
T1  - Factors Responsible for the Diagnostic Odyssey and Counseling for Children with Intellectual Disability
AU  - Sreelatha Komandur
AU  - Beulah Thullimelli
AU  - Aashna Nanda
AU  - Namratha Gangidi
AU  - Venkatesh Pochaboina
AU  - Shyamson Kandula
AU  - Qurratulain Hasan
Y1  - 2026/04/29
PY  - 2026
N1  - https://doi.org/10.11648/j.ijgg.20261402.11
DO  - 10.11648/j.ijgg.20261402.11
T2  - International Journal of Genetics and Genomics
JF  - International Journal of Genetics and Genomics
JO  - International Journal of Genetics and Genomics
SP  - 45
EP  - 49
PB  - Science Publishing Group
SN  - 2376-7359
UR  - https://doi.org/10.11648/j.ijgg.20261402.11
AB  - Intellectual disability (ID), a widely prevalent condition is a neurodevelopmental condition which encompasses diverse causes, both genetic and non-genetic. They most commonly show symptoms of delayed milestones, limited motor skills, unwarranted emotional changes, difficulty in learning new skills and poor memory. Genetic causes usually accounting up to 50%, most frequently includes chromosomal (structural and numerical), monogenic and de novo variants. Advancements in genetic testing options have enabled early diagnosis, minimizing complications and preventing further hereditary transmission. Genetic tests, such as karyotyping, chromosomal microarray (CMA), Next-Generation Sequencing (NGS) and various molecular assays like Multiplex Ligation-dependent Probe Amplification (MLPA), Methylation Specific polymerase chain reaction (MS-PCR) are available in contemporary healthcare settings for timely diagnosis. This study focuses on individuals with Intellectual disability (ID), who require support for diagnosis and rehabilitation and are visiting the National Institute for the Empowerment of Persons with Intellectual Disabilities (NIEPID) for therapy and are referred for genetic testing and genetic counseling. The paper also analyzes the reasons for diagnostic delays and gaps in genetic counseling, affecting the treatment and management. It also advocates for collective efforts to enhance awareness, potentially reduce costs and improve accessibility for testing, paving the way for a future grounded in precise management and preventative medicine.
VL  - 14
IS  - 2
ER  -

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