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Copyright: ©Author(s) 2026. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See permissions. Published by Baishideng Publishing Group Inc.
World J Clin Pediatr. Sep 9, 2026; 15(3): 118721
Published online Sep 9, 2026. doi: 10.5409/wjcp.118721
Association between consanguinity and neurological and developmental disorders in pediatric patients: A retrospective cohort study in Jazan, Saudi Arabia
Abdullah H Alhamoud, Department of Pediatric Intensive Care Unit, Jazan General Hospital, Jazan Health Cluster, Jazan 82722, Saudi Arabia
Abdullah H Alhamoud, Ali M Muthaffar, Mazin A Sabi, Department of Pediatric, King Fahad Central Hospital, Jazan Health Cluster, Jazan 82722, Saudi Arabia
Nora E Granana, Asmaa A Aboelsoud, Abdu M Hawas, Department of Pediatric Neurology, King Fahad Central Hospital, Jazan Health Cluster, Jazan 82722, Saudi Arabia
Mohammed F Bajahzer, Department of Clinical Nutrition, College of Nursing and Health Sciences, Jazan University, Ministry of Education, Jazan 82722, Saudi Arabia
Reem H Harbi, Department of Medicine, King Fahad Central Hospital, Jazan Health Cluster, Jazan 82722, Saudi Arabia
Maram H Harbi, Department of Emergency, Jazan General Hospital, Jazan Health Cluster, Jazan 82722, Saudi Arabia
ORCID number: Abdullah H Alhamoud (0000-0002-3227-9232); Nora E Granana (0000-0002-8448-2611); Mohammed F Bajahzer (0000-0002-5244-299x); Ali M Muthaffar (0009-0002-9341-4423); Mazin A Sabi (0000-0002-4541-1837); Asmaa A Aboelsoud (0009-0000-0947-186x); Reem H Harbi (0009-0006-1547-1907); Maram H Harbi (0009-0007-2220-3457); Abdu M Hawas (0009-0004-0844-7701).
Author contributions: Alhamoud AH and Granana NE conceptualized the study; Alhamoud AH, Granana NE, Muthaffar AM, and Hawas AM developed the methodology; Aboelsoud AA, Harbi RH, Harbi MH, and Sabi MA collected the data; Bajahzer MF and Granana NE performed the formal analysis; Alhamoud AH and Granana NE supervised the study; Alhamoud AH and Muthaffar AM wrote the original draft; Alhamoud AH, Granana NE, and Muthaffar AM reviewed and edited the manuscript; all authors reviewed and approved the final version of the manuscript.
Institutional review board statement: Ethical approval was obtained from the Jazan Health Committee (Approval No. 23100; Date: 25/10/2023). The study adhered to the Declaration of Helsinki.
Informed consent statement: Informed consent/assent requirements were waived for this minimal-risk retrospective chart review per Institutional review board policy; patient data were anonymized and handled confidentially.
Conflict-of-interest statement: The authors declare no conflicts of interest.
STROBE statement: The authors have read the STROBE Statement-checklist of items, and the manuscript was prepared and revised according to the STROBE Statement-checklist of items.
Data sharing statement: De-identified data are available from the corresponding author upon reasonable request, subject to institutional and ethical restrictions.
Corresponding author: Abdullah H Alhamoud, MD, Department of Pediatric Intensive Care Unit, Jazan General Hospital, Jazan Health Cluster, Street 7, Jazan 82722, Saudi Arabia. dr.alhamoud1990@gmail.com
Received: January 9, 2026
Revised: January 30, 2026
Accepted: April 7, 2026
Published online: September 9, 2026
Processing time: 202 Days and 5 Hours

Abstract
BACKGROUND

Consanguineous marriage is common in Saudi Arabia and is associated with an increased risk of inherited disorders. However, its relationship with specific neurological and developmental outcomes in children remains incompletely characterized.

AIM

To examine the association between parental consanguinity and neurological and developmental disorders among pediatric patients in the Jazan region of Saudi Arabia.

METHODS

This retrospective cohort study reviewed the medical records of children younger than 14 years who were diagnosed with non-acquired neurological or developmental disorders at King Fahad Central Hospital between January 2022 and December 2023. Patients were categorized according to parental consanguinity status (second cousins or closer vs non-consanguineous). Demographic and clinical characteristics were compared using χ2 or Fisher’s exact tests, with a significance threshold of P < 0.05.

RESULTS

A total of 105 children were included (mean age 6.26 ± 3.96 years; 63.8% male), of whom 59% had consanguineous parents. Epilepsy was the most prevalent diagnosis (76%), and developmental disorders were present in 69.5% of the children. Focal epilepsy was the most common epilepsy subtype, while global developmental delay/intellectual disability were the most frequent developmental disorders. Although minor differences were observed in the distribution of epilepsy types and developmental disorders between the consanguineous and non-consanguineous groups, these differences were not statistically significant.

CONCLUSION

No clear association was identified between parental consanguinity and the distribution of epilepsy types or developmental disorders in this cohort. Although minor variations were observed between groups, they did not demonstrate statistically significant trends related to parental relatedness, likely reflecting individual variability and the limited sample size. Larger studies across broader populations are needed to further clarify potential associations.

Key Words: Consanguinity; Developmental disabilities; Epilepsy; Children; Genetic counseling; Saudi Arabia

Core Tip: Parental consanguinity remains common in Saudi Arabia and may contribute to the burden of pediatric neurological and developmental disorders. In this retrospective cohort study, children born to consanguineous parents as compared to those born to non-consanguineous ones showed slight discrepancies in the distribution of epilepsy types and developmental disorders; however, there was no clear evidence to support an association between consanguinity and these discrepancies. These findings, nonetheless, should not undermine the link between consanguinity and neurodevelopmental outcomes or the importance of early developmental screening and culturally sensitive genetic counseling in high-consanguinity regions.



INTRODUCTION

Consanguinity, derived from the Latin term meaning “shared blood”, refers to marriages between individuals who are biologically related. Such unions are particularly common in certain populations and are associated with an increased risk of autosomal recessive genetic disorders in offspring[1]. Globally, more than 1.2 billion people are estimated to live in communities where consanguineous marriages are practiced[2]. Educational interventions play an important role in enabling individuals to make informed reproductive decisions and in reducing the potential genetic risks associated with these unions.

Consanguineous marriages have been practiced for generations in many societies worldwide[3]. Among these, first-cousin marriages are the most common form, with spouses sharing approximately 12.5% of their genes inherited from common ancestors. This results in an estimated 6.25% homozygosity across genetic loci in their offspring[4]. In Arab countries-including North Africa, the Middle East, and Western Asia-the prevalence of consanguineous marriages ranges from approximately 20% to more than 50% of all unions[5].

In Saudi Arabia, the prevalence of consanguinity varies considerably across regions, with reported rates ranging from 42% to 67%. Studies conducted in the Jazan region indicate particularly high rates[6-8]; for example, one study reported that 66% of married university students were in consanguineous unions compared with 33.3% in non-consanguineous marriages[9]. These findings suggest that sociocultural and familial factors continue to support the practice even among relatively educated populations.

Consanguinity is a well-recognized risk factor for autosomal recessive disorders and neurodevelopmental disabilities[6,10-18]. Higher burdens of congenital anomalies and inherited conditions have been reported in populations with high consanguinity rates[14-25]. Neurological and developmental disorders-including epilepsy, intellectual disability (ID), and autism spectrum disorder (ASD)-have also been associated with consanguinity, largely due to the increased probability of homozygous recessive mutations in offspring of related parents.

This study therefore aimed to examine the association between parental consanguinity and neurological and developmental disorders among pediatric patients in the Jazan region of Saudi Arabia.

MATERIALS AND METHODS
Study design

This retrospective cohort study was conducted at King Fahad Central Hospital in Jazan, Saudi Arabia, over a two-year period from January 2022 to December 2023.

Study population and eligibility

A total of 105 pediatric patients diagnosed with neurological or developmental disorders were included. Participants were categorized into two cohorts based on parental consanguinity status. The consanguineous group included children whose parents were related as second cousins or closer, while the non-consanguineous group included children whose parents were unrelated.

Children younger than 14 years with a confirmed diagnosis of a non-acquired neurological or developmental disorder were eligible for inclusion. Only records with documented parental consanguinity status were included. Children with acquired neurological disorders (e.g., trauma, central nervous system infections, metabolic or environmental causes), missing or unclear consanguinity data, or incomplete/duplicate records were excluded.

Data collection and definitions

Data were extracted through detailed medical chart reviews and included demographic characteristics (age, sex, and nationality) and clinical diagnoses.

Neurological diagnoses included genetic syndromes, epilepsy, developmental delay, and brain dysplasia. Epilepsy was clinically classified as focal, generalized, or undetermined based on documentation from the treating neurology team and supported by electroencephalography and neuroimaging findings when available.

Developmental disorders were categorized into global developmental delay (GDD), ID, language and communication disorders, motor impairments, and ASD. Diagnoses were recorded as documented by the treating pediatric neurology or developmental specialists.

For consistency, GDD was defined as a significant delay in two or more developmental domains in children younger than five years. ID and ASD were recorded according to clinician diagnoses documented in the medical records, including DSM-5-based assessments when available.

Parental consanguinity status was classified as consanguineous or non-consanguineous based on the documented parental relationship. Because the degree of relatedness was not consistently recorded, the inbreeding coefficient (F) could not be calculated for this cohort.

Statistical analysis

Data analysis was performed using Microsoft Excel for Mac (Version 16.107.1). Categorical variables were summarized using n (%), while continuous variables were reported as means ± SDs.

χ2 tests or Fisher’s exact tests were used to compare distributions between the consanguineous and non-consanguineous groups. A P value of less than 0.05 was considered statistically significant.

Ethical considerations

Ethical approval for this study was obtained from the Jazan Health Committee (Approval No. 23100; Date: 25 October 2023).

RESULTS
Sociodemographic characteristics

A total of 105 children with non-acquired neurological or developmental disorders met the inclusion criteria (Table 1). The mean age of the cohort was 6.26 ± 3.96 years (range: 5 months–14 years). Males accounted for 63.8% (67/105) of the participants.

Table 1 Sociodemographic characteristics of the study population, n (%).
Characteristic
Value
Total participants (n)105
M67 (63.8)
F38 (36.2)
Sex ratio (M:F)1.76:1
Age
    Mean (years) ± SD6.26 ± 3.96
    Range(5 months-14 years)
Consanguinity62 (59)
Non-consanguinity43 (41)

Parental consanguinity was documented in 62 cases (59%), whereas 43 children (41%) were born to non-consanguineous parents. Most participants were Saudi nationals (85%), followed by Yemeni (5%), while the remaining 10% represented other nationalities, including the Philippines, Pakistan, Syria, Egypt, and Niger.

Neurological syndromes

Among the neurological disorders identified, genetic syndromes were the most frequently diagnosed, observed in 51.4% (54/105) of the total cohort (Table 2). These diagnoses were more commonly recorded among children born to consanguineous parents.

Table 2 Neurological syndromes by consanguinity status, n (%).
Syndrome
Consanguineous
Non-consanguineous
Total
n6243105
Genetic syndromes36 (58.1)18 (41.9)54 (51.4)
Brain dysplasia4 (6.5)6 (14.0)10 (9.5)
Epilepsy47 (75.8)33 (76.7)80 (76.2)

In this retrospective cohort, the term “genetic syndromes” refers to syndromic or suspected genetic etiologies documented in the medical records (e.g., clinician diagnosis and/or specialist impression). Specific molecular confirmation was not consistently available or documented for all cases.

Epilepsy

Epilepsy was diagnosed in 76.2% of the study population (80/105), representing the most prevalent neurological condition (Table 2). The proportion of epilepsy cases was similar between the consanguineous group (47/62, 75.8%) and the non-consanguineous group (33/43, 76.7%), with no statistically significant difference (P = 0.91) (Table 3).

Table 3 Association between epilepsy and consanguinity status, n (%).
Epilepsy
Consanguineous
Non-consanguineous
Total
χ2
P value
Any epilepsy47 (75.8)33 (76.7)80 (76.2)0.010.91
Epilepsy type among epilepsy cases
Focal epilepsy23 (48.9)20 (60.6)43 (53.8)1.060.30
Generalized epilepsy22 (46.8)12 (36.4)34 (42.5)0.870.35
Undetermined2 (4.3)0 (0.0)2 (2.5)10.34
Type not documented0 (0.0)1 (3.0)1 (1.3)10.41

Regarding epilepsy phenotypes, focal epilepsy accounted for 43/80 (53.8%) of all epilepsy cases and was proportionally less common in the consanguineous group (23/47, 48.9%), corresponding to over a 30% reduction in odds (OR = 0.67) compared with the non-consanguineous epilepsy group (20/33, 60.6%); however, this difference was not statistically significant (P = 0.30) (Table 3).

Conversely, children from consanguineous families showed higher odds of generalized epilepsy (OR = 1.57), with 22/47 cases (46.8%) compared with 12/33 cases (36.4%) in the non-consanguineous group; however, this difference also did not reach statistical significance (P = 0.35) (Table 3).

Cases classified as undetermined epilepsy or with undocumented epilepsy type were either absent or very few in both groups, with no clear trends or statistically significant differences between the consanguineous and non-consanguineous groups (P = 0.34 and P = 0.41, respectively) (Table 3).

Developmental disorders

Developmental disorders were identified in 73/105 children (69.5%) (Table 4). A higher proportion was observed among children from consanguineous families (45/62, 72.6%) compared with those from non-consanguineous families (28/43, 65.1%); however, this difference did not reach statistical significance (P = 0.41).

Table 4 Association between developmental disorders and consanguinity status, n (%).
Developmental disorder
Consanguineous
Non-consanguineous
Total
χ2
P value
Any developmental disorder45 (72.6)28 (65.1)73 (69.5)0.670.41
GDD/ID32 (51.6)19 (44.2)51 (48.6)0.560.45
Language delay11 (17.7)6 (14.0)17 (16.2)0.270.60
Motor impairment17 (27.4)6 (14.0)23 (21.9)2.690.10
ASD2 (3.2)2 (4.6)4 (3.8)10.36

A trend toward increased motor impairment disorders was observed in the consanguineous group (17/62, 27.4%) compared with the non-consanguineous group (6/43, 14.0%), corresponding to more than twice the odds (OR = 2.33; χ2 = 2.69). Nevertheless, this difference did not reach statistical significance (P = 0.10) (Table 4).

Similarly, minor proportional differences were observed in the distribution of other developmental disorders between the two groups, but none reached statistical significance. These included language delay (11/62, 17.7% vs 6/43, 14.0%; P = 0.60), GDD/ID (32/62, 51.6% vs 19/43, 44.2%; P = 0.45), and ASD (2/62, 3.2% vs 2/43, 4.6%; P = 0.36) (Table 4).

Association of epilepsy with developmental disorders

Developmental disorders were identified in 61/80 children with epilepsy (76.3%). Within this subgroup, a slightly lower proportion of children from consanguineous families (36/48, 75.0%) had at least one developmental disorder compared with those from non-consanguineous families (25/32, 78.1%); however, this difference was not statistically significant (P = 0.75).

A trend toward higher odds of motor impairment disorders was observed among children from consanguineous families. Specifically, motor impairment was identified in 11/48 (22.9%) children in the consanguineous group compared with 3/32 (9.4%) in the non-consanguineous group, corresponding to approximately threefold higher odds (OR = 2.79; χ2 = 2.44). However, this difference did not reach statistical significance (P = 0.12).

Similarly, slight proportional differences were observed in the distribution of other developmental disorders between the two groups, but none reached statistical significance. These included language delay (7/48, 14.6% vs 4/32, 12.5%; P = 0.79), GDD/ID (23/48, 47.9% vs 14/32, 43.8%; P = 0.71), and ASD (2/48, 4.2% vs 0/32, 0.0%; P = 0.36) (Table 5).

Table 5 Developmental disorders among children with epilepsy, stratified by consanguinity status, n (%).
Developmental disorder
Epilepsy + consanguineous
Epilepsy + non-consanguineous
Total
χ2
P value
n483280
Any developmental disorder36 (75.0)25 (78.1)61 (76.3)0.100.75
GDD/ID23 (47.9)14 (43.8)37 (46.3)0.130.71
Language delay7 (14.6)4 (12.5)11 (13.8)0.070.79
Motor impairment11 (22.9)3 (9.4)14 (17.5)2.440.12
ASD2 (4.2)0 (0.0)2 (2.5)10.36
DISCUSSION

Neurological and developmental disorders impose substantial physical, cognitive, emotional, and economic burdens on children, families, and healthcare systems worldwide[13,14,20,21]. Reliable epidemiological data are therefore essential for effective preventive planning; however, available evidence from Saudi Arabia remains largely hospital-based and fragmented[13,20].

This study contributes to regional knowledge by characterizing pediatric neurological and developmental disorders in a high-consanguinity setting. Consistent with previous genomic studies from Saudi Arabia[13,15-17], 59% of affected children in our cohort were born to consanguineous parents.

Whole-exome sequencing studies conducted in Saudi populations have demonstrated diagnostic yields of approximately 53% in consanguineous cohorts compared with 25%-35% in mixed populations. In highly selected neurogenetic families[11-15]; the diagnostic yield may reach up to 86%[12,16]. Because our cohort consisted predominantly of Saudi patients, these findings provide relevant contextual benchmarks[13,17].

Consanguinity is a well-established risk factor for autosomal recessive disorders and associated neurodevelopmental disabilities[14-18]. Population studies from Kuwait, Qatar, and China report markedly higher risks of recessive disorders, structural anomalies, developmental delay, and ASD among offspring of consanguineous unions[14-16,18-20]. Risk increases with closer parental relatedness and repeated intrafamilial marriages[21-23]. National surveys cite Saudi consanguinity rates of 42%-67%[6-8], while registry data indicate one of the world’s highest burdens of recessive disease[17-23]. Local figures are even higher (up to 80% in Samtah[18,19] and 66% among Jazan university students[9] yet awareness of carrier-screening programmes remains limited[17,23].

In our cohort, epilepsy affected 80/105 children (76%), which is higher than rates reported in some regional cohorts (e.g., 17.7%)[19,24]. This difference may reflect tertiary-care case mix, referral bias, and phenotype heterogeneity. Despite biological plausibility, epilepsy frequency did not differ significantly between consanguineous and non-consanguineous groups, in contrast to reports of higher odds elsewhere[24-31]. Sample size, referral bias, and heterogeneous epilepsy phenotypes may explain this discrepancy[31]. Importantly, phenotype distribution differed between groups; focal epilepsy was proportionally more frequent within the non-consanguineous epilepsy subgroup (Table 3), which may contribute to heterogeneity in neurodevelopmental comorbidity patterns and supports cautious interpretation beyond overall epilepsy prevalence.

By contrast, developmental phenotypes-particularly language delay and motor impairment-were more common in children from consanguineous families. Similar patterns have been documented in Jordan, Qatar, and Saudi Arabia, where autosomal-recessive ID (ARID) syndromes predominate[32-36]. Up to 3000 genes may underlie ARID[34,36], and many identifiable causes in consanguineous families are recessive[34,36]. Epilepsy is a frequent co-morbidity in these cohorts, whereas ASD associations are inconsistent[32,34]. Our data mirror these inconsistencies: Parental consanguinity did not increase ASD risk, consistent with findings from Qatar[37,38], although chromosomal microarray and exome studies in consanguineous ASD cohorts show higher diagnostic yields[39,40]. Perinatal insults, male sex, and advanced maternal age may further modulate ASD risk in high-consanguinity settings[41,42]; however, these variables were not systematically captured in our records.

The developmental outcomes did not reach statistical significance. Similar findings have been reported in prior Middle Eastern studies, which have sometimes shown no significant group differences[43,44]. Complex inheritance patterns, modifier effects, and incomplete penetrance complicate clear genotype–phenotype mapping. Although language disorders are common in children with GDD/ID (approximately 18/1000) and occur more frequently in boys and socio-economically disadvantaged families[44], the comparable GDD/ID prevalence across our groups suggests that consanguinity may not contribute specifically beyond the overall developmental burden.

Public attitudes toward consanguinity remain mixed, with perceived cultural benefits weighed against potential health risks[6]. A nationwide Saudi survey revealed low disease-specific awareness despite high social-media use, highlighting an opportunity for targeted genetic-counselling campaigns[17,23]. Cultural drivers-including preservation of tribal identity, financial solidarity, and restricted premarital interaction outside kin continue to sustain high consanguinity rates.

Limitations

This study has important limitations. Because it was retrospective and based on medical records, incomplete documentation may have affected the accuracy of diagnostic and consanguinity classification. The single-center design and relatively small sample size may also have limited statistical power and generalizability. In addition, the absence of a control group without neurological or developmental disorders limits interpretation, as the study compared affected children by parental consanguinity status rather than estimating disease risk in the general pediatric population. Another key limitation is that inheritance patterns were not directly established, since molecular genetic confirmation and formal pedigree analysis were not consistently available. Thus, cases were not selected on the basis of proven autosomal recessive inheritance, and any reference to such mechanisms is based on prior literature rather than direct confirmation in this cohort. Residual confounding from unmeasured clinical and familial factors is also possible.

CONCLUSION

This study found no clear association between parental consanguinity and the distribution of epilepsy types or developmental disorders among pediatric patients in this cohort. Although minor differences were observed between groups, these variations were not statistically significant and may reflect individual variability and the relatively small sample size. Nevertheless, the findings highlight the importance of culturally sensitive genetic counseling and early developmental screening in populations with high consanguinity rates. Further large-scale studies across multiple regions are needed to better define the population-level impact of consanguinity on neurological and developmental outcomes.

ACKNOWLEDGEMENTS

The authors used ChatGPT (OpenAI) only for language editing; no statistical or scientific analyses were performed by AI.

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Footnotes

Peer review: Externally peer reviewed.

Peer-review model: Single blind

Specialty type: Pediatrics

Country of origin: Saudi Arabia

Peer-review report’s classification

Scientific quality: Grade B, Grade B, Grade C, Grade C

Novelty: Grade B, Grade B, Grade C, Grade C

Creativity or innovation: Grade B, Grade B, Grade C, Grade C

Scientific significance: Grade A, Grade B, Grade C, Grade C

P-Reviewer: Malik S, PhD, Professor, Researcher, Tenured Professor, Pakistan; Neefjes VME, Consultant, PhD, United Kingdom S-Editor: Qu XL L-Editor: A P-Editor: Wang WB

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