To investigate the behavioral outcomes of children with clefts and the psychosocial impact and mental health experiences of their caregivers regarding unintended outcomes of genomic sequencing, that is, secondary genetic findings (SFs).
Design
Convergent parallel mixed methods.
Setting
The cleft and immunization clinics at the Lagos University Teaching, Hospital, Nigeria.
Participants
In total, 127 cases and 158 control caregiver child dyads (quantitative) and 22 caregivers of children with clefts (qualitative).
Main Outcome Measures
Standardized questionnaires were used to assess caregiver-reported mental health, quality of life (QoL), and their children's behavioral difficulties. In 2 focus groups, participants shared their perspectives on genomic testing outcomes, including SFs, mental health, and expectations in the context of clefts.
Results
Compared to the control group, caregivers of children with clefts reported poorer mental health, lower QoL and more behavioral difficulties in their children. Also, they believed that introducing genomic testing outcomes, including SFs, may exacerbate existing burdens. Following qualitative data analyses, 5 themes emerged—genetics knowledge/awareness, stressors, cognitive appraisals, coping/support strategies, and negative impact/positive gains. Both qualitative and quantitative results showed that caring for children with clefts required significant financial resources placing substantial stress on caregivers.
Conclusions
These findings highlight the importance of addressing caregivers’ psychosocial needs and the need for proactive measures to prepare for the return of genomic sequencing outcomes to patients and research participants, particularly in resource-limited settings like Africa, where such support may be lacking.
SchutteBCMurrayJC. The many faces and factors of orofacial clefts. Hum Mol Genet. 1999;8(10):1853–1859.
3.
AwoyaleTOnajoleATOgunnowoBEAdeyemoWLWanyonyiKLButaliA. Quality of life of family caregivers of children with orofacial clefts in Nigeria: a mixed-method study. Oral Dis. 2016;22(2):116–122. doi:https://doi.org/10.1111/odi.12379
4.
GallowayJDaviesGMosseyP. International knowledge of direct costs of cleft lip and palate treatment. Arch Pediatr Surg. 2017;1(1):10–25.
5.
NasreddineGEl HajjJGhassibe-SabbaghM. Orofacial clefts embryology, classification, epidemiology, and genetics. Mutat Res/Rev Mutat Res. 2021;787:108373. doi:10.1016/j.mrrev.2021.108373
6.
StewartBTHatcherKWSenguptaABurgRV. Cleft-related infanticide and abandonment: a systematic review of the academic and lay literature. Cleft Palate Craniofac J. 2018;55(1):98–104.
7.
MalicCCLamMDonelleJRichardLVigodSBenchimolEI. The burden of psychiatric disorders associated with orofacial cleft pathology among children in Ontario, Canada. J Plast Reconstr Aesthet Surg. 2023;84:422–431. doi:10.1016/j.bjps.2023.06.019
8.
BrandSBlechschmidtAMüllerA, et al.Psychosocial functioning and sleep patterns in children and adolescents with cleft lip and palate (CLP) compared with healthy controls. Cleft Palate Craniofac J. 2009;46(2):124–135.
9.
MurrayLArtecheABingleyC, et al.The effect of cleft lip on socio-emotional functioning in school-aged children. J Child Psychol Psychiatry. 2010;51(1):94–103.
10.
WaylenAMahmoudOWillsASellDSandyJNessAR. Centre-level variation in behaviour and the predictors of behaviour in 5-year-old children with non-syndromic unilateral cleft lip: the Cleft Care UK study. Part 5. Orthod Craniofac Res. 2017;20(Suppl. 2):40-47. doi:10.1111/ocr.12187
11.
GbolahanOOAmiedeOSSamuelOA. The burden and perceived stress on family caregivers of patients with orofacial cleft deformities in the perioperative period of cleft repair. J Patient Exp. 2020;7(6):1602–1609.
12.
NamdarPPourasgharMAlizadehFLShivaA. Anxiety, depression, and quality of life in caregivers of children with cleft lip and palate: a systematic review. Iran J Psychiatry Behav Sci. 2022;16(2):e113591.
13.
Toledano-ToledanoFLunaD. The psychosocial profile of family caregivers of children with chronic diseases: a cross-sectional study. Biopsychosoc Med. 2020;14(1):29. doi:https://doi.org/10.1186/s13030-020-00201-y
14.
LeVineRALeVineSSchnell-AnzolaBRoweMLDexterE. Literacy and mothering: How women's schooling changes the lives of the world's children. Oxford University Press; 2011.
15.
Panter-BrickCGrimonM-PEggermanM. Caregiver-child mental health: a prospective study in conflict and refugee settings. J Child Psychol Psychiatry. 2014;55(4):313–327. doi:https://doi.org/10.1111/jcpp.12167
HoudayerFPutoisOBabonneauM, et al.Secondary findings from next generation sequencing: psychological and ethical issues. Family and patient perspectives. Eur J Med Genet. 2019;62(10):103711.
18.
RobinsonJOWynnJBieseckerB, et al.Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies. Genet Med. 2019;21(12):2781–2790. doi:https://doi.org/10.1038/s41436-019-0565-3
19.
TekolaFBullSFarsidesB, et al.Impact of social stigma on the process of obtaining informed consent for genetic research on podoconiosis: a qualitative study. BMC Med Ethics. 2009;10:13. doi:https://doi.org/10.1186/1472-6939-10-13
20.
OladayoAGowansLJJAwotoyeW, et al.Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts. Mol Genet Genomic Med. 2023;11(10). doi:https://doi.org/10.1002/mgg3.2237
21.
OladayoAProchaskaSBuschT, et al.Parents and provider perspectives on the return of genomic findings for cleft families in Africa. AJOB Empir Bioeth. 2024;15(2):133–146. doi:https://doi.org/10.1080/23294515.2024.2302993
22.
WHO. The World Health Organization quality of life assessment (WHOQOL): position paper from the World Health Organization. Soc Sci Med. 1995;41(10):1403–1409. doi:https://doi.org/10.1016/0277-9536(95)00112-K
23.
Skevington SM, Lotfy M, O'Connell KA; WHOQOL Group. The World Health Organization's WHOQOL-BREF quality of life assessment: psychometric properties and results of the international field trial. A report from the WHOQOL group. Qual Life Res. 2004;13(2):299-310. doi:10.1023/B:QURE.0000018486.91360.00
24.
WHO. The World Health Organization Quality of Life Assessment (WHOQOL-BREF): introduction, administration, scoring and generic version of the assessment. Programme on Mental Health; 1996. https://apps.who.int/iris/handle/10665/63529
25.
VeitCTWareJE. The structure of psychological distress and well-being in general populations. J Consult Clin Psychol. 1983;51(5):730–742.
26.
MeybodiFASaeediZBehjatiZNoorbalaFDastbaravardecAEnjedanyE. Reliability and validity of a Farsi version of 18-item Mental Health Inventory. Procedia Soc Behav Sci. 2011;30:1425–1429.
27.
NaphadePSinghPRaoP, et al.Psychiatric symptoms and fatigue in COVID-19 survivors. Cureus. 2023;15(9):e45651. doi:https://doi.org/10.7759/cureus.45651
28.
PascoJAHollowayKLStuartALWilliamsLJBrennan-OlsenSLBerkM. The subjective wellbeing profile of the “pretiree” demographic: a cross-sectional study. Maturitas. 2018;110:111–117. doi:https://doi.org/10.1016/j.maturitas.2018.02.006
29.
WongFYYangLYuenJWMChangKKPWongFKY. Assessing quality of life using WHOQOL-BREF: a cross-sectional study on the association between quality of life and neighborhood environmental satisfaction, and the mediating effect of health-related behaviors. BMC Public Health. 2018;18(1):1113. doi:https://doi.org/10.1186/s12889-018-5942-3
30.
LeungKFWongWWTayMSChuMMNgSS. Development and validation of the interview version of the Hong Kong Chinese WHOQOL-BREF. Qual Life Res. 2005;14(5):1413–1419. doi:https://doi.org/10.1007/s11136-004-4772-1
Ortuno-SierraJChocarroEFonseca-PedreroEi RibaSSMuñizJ. The assessment of emotional and behavioural problems: internal structure of The Strengths and Difficulties Questionnaire. Int J Clin Health Psychol. 2015;15(3):265–273.
33.
HoosenNDavidsELde VriesPJShung-KingM. The Strengths and Difficulties Questionnaire (SDQ) in Africa: a scoping review of its application and validation. Child Adolesc Psychiatry Ment Health. 2018;12(1):6. doi:https://doi.org/10.1186/s13034-017-0212-1
34.
ElhamidAAHoweAReadingR. Prevalence of emotional and behavioural problems among 6–12 year old children in Egypt. Soc Psychiatry Psychiatr Epidemiol. 2009;44(1):8–14. doi:10.1007/s00127-008-0394-1
35.
KashalaELundervoldASommerfeltKTylleskärTElgenI. Co-existing symptoms and risk factors among African school children with hyperactivity-inattention symptoms in Kinshasa, Congo. Eur Child Adolesc Psychiatry. 2006;15(5):292–299. doi:https://doi.org/10.1007/s00787-006-0536-5
36.
BakareMOUbochiVNEbigboPOOrovwighoAO. Problem and pro-social behavior among Nigerian children with intellectual disability: the implication for developing policy for school based mental health programs. Ital J Pediatr. 2010;36:37. doi:10.1186/1824-7288-36-37
37.
AbdulmalikJAniCAjuwonAJOmigbodunO. Effects of problem-solving interventions on aggressive behaviours among primary school pupils in Ibadan, Nigeria. Child Adolesc Psychiatry Ment Health. 2016;10(1):31. doi:https://doi.org/10.1186/s13034-016-0116-5
38.
AbboCKinyandaEKizzaRBLevinJNdyanabangiSSteinDJ. Prevalence, comorbidity and predictors of anxiety disorders in children and adolescents in rural north-eastern Uganda. Child Adolesc Psychiatry Ment Health. 2013;7(1):21. doi:https://doi.org/10.1186/1753-2000-7-21
39.
KinyandaEKizzaRAbboCNdyanabangiSLevinJ. Prevalence and risk factors of depression in childhood and adolescence as seen in 4 districts of north-eastern Uganda. BMC Int Health Hum Rights. 2013;13:1–10.
40.
Bella-AwusahTAniCAjuwonAOmigbodunO. Effectiveness of brief school-based, group cognitive behavioural therapy for depressed adolescents in south west Nigeria. Child Adolesc Ment Health. 2016;21(1):44–50.
41.
BermanSSharpGCLewisSJ, et al.Prevalence and factors associated with behavioral problems in 5-year-old children born with cleft lip and/or palate from the cleft collective. Cleft Palate Craniofac J. 2024;61(1):40–51. doi:https://doi.org/10.1177/10556656221119684
42.
PuryearLDownsNNevedalA, et al.Patient and provider perspectives on the development of personalized medicine: a mixed-methods approach. J Community Genet. 2018;9(3):283–291. doi:https://doi.org/10.1007/s12687-017-0349-x
43.
ChristenhuszGMDevriendtKDierickxK. Disclosing incidental findings in genetics contexts: a review of the empirical ethical research. Eur J Med Genet. 2013;56(10):529–540. doi:https://doi.org/10.1016/j.ejmg.2013.08.006
44.
AppelbaumPSWaldmanCRFyerA, et al.Informed consent for return of incidental findings in genomic research. Genet Med. 2014;16(5):367–373. doi:https://doi.org/10.1038/gim.2013.145
45.
LaiASitSLamS, et al.A phenomenological study on the positive and negative experiences of Chinese international university students from Hong Kong studying in the U.K. and U.S. in the early stage of the COVID-19 pandemic. Front Psychiatry. 2021;12. doi:https://doi.org/10.3389/fpsyt.2021.738474
46.
LazarusRSFolkmanS. Stress, Appraisal, and Coping. Springer Publishing Company; 1984.
47.
ZhangYWildemuthBM. Qualitative analysis of content. Appl Soc Res Methods Quest Inf Lib Sci. 2009;308(319):1–12.
48.
JanesickVJ. Peer debriefing. In: Ritzer G, ed. The Blackwell Encyclopedia of Sociology. Blackwell Pub, 2015, pp.3387-3388. doi:10.1002/9781405165518.wbeosp014.pub2
49.
KellyMJDunstanFDLloydKFoneDL. Evaluating cutpoints for the MHI-5 and MCS using the GHQ-12: a comparison of five different methods. BMC Psychiatry. 2008;8(1):10. doi:https://doi.org/10.1186/1471-244X-8-10
50.
GameiroSvan den Belt-DuseboutAWBleikerEBraatDvan LeeuwenFEVerhaakCM. Do children make you happier? Sustained child-wish and mental health in women 11-17 years after fertility treatment. Hum Reprod. 2014;29(10):2238–2246. doi:https://doi.org/10.1093/humrep/deu178
51.
BeluciMLMondiniCCSDTretteneASDantasRAS. Correlation between quality of life and burden of family caregivers of infants with cleft lip and palate. Rev Esc Enferm USP. 2019;53:e03432.
52.
EmekaCIAdeyemoWLLadeindeALButaliA. A comparative study of quality of life of families with children born with cleft lip and/or palate before and after surgical treatment. J Korean Assoc Oral Maxillofac Surg. 2017;43(4):247.
53.
LentgeKLentgeFZellerAN, et al.Cleft lip and palate: the psychological burden of affected parents during the first three years of their children’s lives. Int J Oral Maxillofac Surg. 2022;51(11):1462–1468. doi:https://doi.org/10.1016/j.ijom.2022.04.003
54.
De Cuyper E, Dochy F, De Leenheer E, Van Hoecke H. The impact of cleft lip and/or palate on parental quality of life: A pilot study. Int J Pediatr Otorhinolaryngol. 2019;126:109598. doi:10.1016/j.ijporl.2019.109598
55.
NideyNMoreno UribeLMMarazitaMMWehbyGL. Psychosocial well-being of parents of children with oral clefts. Child Care Health Dev. 2016;42(1):42–50. doi:https://doi.org/10.1111/cch.12276
56.
MasefieldSCPradySLSheldonTASmallNJarvisSPickettKE. The caregiver health effects of caring for young children with developmental disabilities: a meta-analysis. Matern Child Health J. 2020;24(5):561–574. doi:https://doi.org/10.1007/s10995-020-02896-5
57.
SischoLCloustonSAPhillipsCBroderHL. Caregiver responses to early cleft palate care: a mixed method approach. Health Psychol. 2016;35(5):474–482.
58.
BoztepeHÇınarSÖzgürFF. Parenting stress in Turkish mothers of infants with cleft lip and/or palate. Cleft Palate Craniofac J. 2020;57(6):753–761.
59.
KumarKKumarSMehrotraDGuptaSKhandpurSMishraRK. A psychologic assessment of the parents of patients with cleft lip and palate. J Craniofac Surg. 2020;31(1):58–61.
60.
BosAPrahlCSterkenburgPS. Mothers of children with an orofacial cleft: satisfaction with motherhood and experience of stress. Den Oral Craniofac Res. 2018;4(2):1–7. doi:10.15761/DOCR.1000239
61.
GrollemundBDissauxCGavelleP, et al. The impact of having a baby with cleft lip and palate on parents and on parent-baby relationship: the first French prospective multicentre study. BMC Pediatr. 2020;20:1–11.
62.
PinquartM. Parenting stress in caregivers of children with chronic physical condition—a meta-analysis. Stress Health. 2018;34(2):197–207. doi:https://doi.org/10.1002/smi.2780
63.
PinquartM. Featured article: Depressive symptoms in parents of children with chronic health conditions: a meta-analysis. J Pediatr Psychol. 2019;44(2):139–149.
64.
WehbyGTylerMCLindgrenSRomittiPRobbinsJDamianoP. Oral clefts and behavioral health of young children. Oral Dis. 2012;18(1):74–84.
65.
BergerZEDaltonLJ. Coping with a cleft: psychosocial adjustment of adolescents with a cleft lip and palate and their parents. Cleft Palate Craniofac J. 2009;46(4):435–443.
66.
PinckstonMDaltonLFarrarSHottonMT. The psychosocial adjustment of children born with a cleft lip and/or palate: cross-sectional and longitudinal analyses. Cleft Palate Craniofac J. 2020;57(11):1280–1290.
Sagheri D, Ravens-Sieberer U, Braumann B, von Mackensen S. An Evaluation of Health-Related Quality of Life (HRQoL) in a group of 4-7 year-old children with cleft lip and palate. J Orofac Orthop. 2009;70(4):274-284. English, German. doi:10.1007/s00056-009-9906-1
69.
de OliveiraRLBde Santana SantosTde Almeida TeixeiraJLMartins-FilhoPRSda SilvaLCF. Health-related quality of life patients with a cleft lip and/or palate. J Craniofac Surg. 2015;26(8):2315–2319.
70.
GuillénARPeñacobaCRomeroM. Psychological variables in children and adolescents with cleft lip and/or palate. J Clin Pediatr Dent. 2020;44(2):116–122.
71.
VelillaLAcosta-BaenaNAllenILoperaFKramerJ. Analysis of family stigma and socioeconomic factors impact among caregivers of patients with early- and late-onset Alzheimer's disease and frontotemporal dementia. Sci Rep. 2022;12(1):12663. doi:https://doi.org/10.1038/s41598-022-16400-2
72.
BesserMO’SullivanSBBourkeSLongworthLBarcelosGTOluboyedeY. Economic burden and quality of life of caregivers of patients with sickle cell disease in the United Kingdom and France: a cross-sectional study. J Patient Rep Outcomes. 2024;8(1):1–12.
73.
PrindsCMogensenOHvidtNCBliddalM. First child’s impact on parental relationship: an existential perspective. BMC Pregnancy Childbirth. 2018;18(1):157. doi:https://doi.org/10.1186/s12884-018-1802-5
74.
JohanssonBRingsbergKC. Parents’ experiences of having a child with cleft lip and palate. J Adv Nurs. 2004;47(2):165–173.
75.
TretteneATurbianiARazeraASouzaNTurbianiDSilvaJ. Stress and overload in informative care of children with isolated Robin Sequence. Rev Enferm UFPE. 2017;11(8):3013–3020.
76.
dos Santos TretteneAde Oliveira MaximianoTBeraldoCC, et al.Breastfeeding in infants with labiopalatine cleft. J Nurs UFPE. 2018;12(5).
77.
StockNMCostaBWhitePRumseyN. Risk and protective factors for psychological distress in families following a diagnosis of cleft lip and/or palate. Cleft Palate Craniofac J. 2020;57(1):88–98.
78.
WeiglVRudolphMEysholdtURosanowskiF. Anxiety, depression, and quality of life in mothers of children with cleft lip/palate. Folia Phoniatr Logop. 2005;57(1):20–27. doi:https://doi.org/10.1159/000081958
79.
NegronRMartinAAlmogMBalbierzAHowellEA. Social support during the postpartum period: mothers’ views on needs, expectations, and mobilization of support. Matern Child Health J. 2013;17(4):616–623. doi:10.1007/s10995-012-1037-4
80.
LawKHJacksonBGuelfiKNguyenTDimmockJA. Understanding and alleviating maternal postpartum distress: perspectives from first-time mothers in Australia. Soc Sci Med. 2018;204:59–66. doi:10.1016/j.socscimed.2018.03.022
81.
de VriesJLandouréGWonkamA. Stigma in African genomics research: gendered blame, polygamy, ancestry and disease causal beliefs impact on the risk of harm. Soc Sci Med. 2020;258:113091. doi:https://doi.org/10.1016/j.socscimed.2020.113091
82.
ChristensenKDSchonmanEFRobinsonJO, et al.Behavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patients. NPJ Genom Med. 2021;6(1):72. doi:https://doi.org/10.1038/s41525-021-00236-2
83.
SchwartzMDPeshkinBNHughesCMainDIsaacsCLermanC. Impact of BRCA1/BRCA2 mutation testing on psychologic distress in a clinic-based sample. J Clin Oncol. 2002;20(2):514–520. doi:https://doi.org/10.1200/jco.2002.20.2.514
84.
O'NeillSCRiniCGoldsmithREValdimarsdottirHCohenLHSchwartzMD. Distress among women receiving uninformative BRCA1/2 results: 12-month outcomes. Psychooncology. 2009;18(10):1088–1096. doi:https://doi.org/10.1002/pon.1467
85.
FernandezCVBouffetEMalkinD, et al.Attitudes of parents toward the return of targeted and incidental genomic research findings in children. Genet Med. 2014;16(8):633–640. doi:https://doi.org/10.1038/gim.2013.201
86.
GraySWParkERNajitaJ, et al.Oncologists’ and cancer patients’ views on whole-exome sequencing and incidental findings: results from the CanSeq study. Genet Med. 2016;18(10):1011–1019. doi:https://doi.org/10.1038/gim.2015.207
87.
JelsigAMQvistNBrusgaardKOusagerLB. Research participants in NGS studies want to know about incidental findings. Eur J Hum Genet. 2015;23(10):1423–1426. doi:https://doi.org/10.1038/ejhg.2014.298
88.
DelanneJNambotSChassagneA, et al.Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature. Eur J Med Genet. 2019;62(6):103529. doi:https://doi.org/10.1016/j.ejmg.2018.08.010
89.
ZhongADarrenBLoiseauB, et al.Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: a systematic review. Genet Med. 2021;23(12):2270–2280. doi:https://doi.org/10.1038/s41436-018-0090-9
90.
ChuacharoenRRitthagolWHunsrisakhunJNilmanatK. Felt needs of parents who have a 0-to 3-month-old child with a cleft lip and palate. Cleft Palate Craniofac J. 2009;46(3):252–257.
91.
JohnsALHershfieldJASeifuNMHaynesKA. Postpartum depression in mothers of infants with cleft lip and/or palate. J Craniofac Surg. 2018;29(4):e354–e358.
92.
SongNHugh-JonesSWestRMPickavanceJMirG. The effectiveness of anti-stigma interventions for reducing mental health stigma in young people: a systematic review and meta-analysis. Glob Ment Health (Camb). 2023;10:e39. doi:https://doi.org/10.1017/gmh.2023.34
93.
NkwontaCAMessiasDKHFelderTLuchokK. Intervention to reduce stigma and improve knowledge of HPV and cervical cancer in Nigeria: a community-based assessment. Fam Community Health. 2021;44(4):245–256.
94.
Heredero-BauteL. Community-based program for the diagnosis and prevention of genetic disorders in Cuba: twenty years of experience. Public Health Genom. 2004;7(2-3):130–136.
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