Received: 15 July 2024 Revised: 3 September 2024 Accepted: 5 September 2024

DOI: 10.1111/cge.14619

ORIGINAL ARTICLE

Knowledge and perceptions about fragile X syndrome and

fragile X-premutation-associated conditions among medical
doctors in Nigeria

Chioma N. P. Mbachu 1,2 | Randi Hagerman 2,3 | Edwin Eseigbe 4 |

Amalachukwu Odita 1 | Ikechukwu Mbachu 5 | Samuel Ilikanu 6 |
Kasarachi Akowundu 7 | Chizalu Ndukwu 1 | Malachy Echezona 8 |
Onyedikachi Okereke 9 | Sylvia Echendu 1 | Ifeoma Udigwe 10
1
Department of Paediatrics, Faculty of Medicine, College of Health Sciences, Nnamdi Azikiwe University, Nnewi Campus, Nnewi, Anambra, Nigeria
2
University of California Davis MIND Institute, Sacramento, California, USA
3
Department of Pediatrics, University of California Davis Health, Sacramento, California, USA
4
Department of Paediatrics, Benue State University and Teaching Hospital, Makurdi, Nigeria
5
Department of Obstetrics, Faculty of Medicine, College of Health Sciences, Nnamdi Azikiwe University, Nnewi Campus, Nnewi, Nigeria
6
Department of Obstetrics and Gynaecology, Federal Medical Centre, Asaba, Nigeria
7
Department of Paediatrics, Lagos University Teaching Hospital, Idi Araba, Nigeria
8
Department of Medicine, Faculty of Medicine, College of Health Sciences, Nnamdi Azikiwe University, Nnewi Campus, Nnewi, Nigeria
9
Department of Surgery, Nuffield Health Ipswich Hospital, Ipswich, UK
10
Department of Community Medicine, Faculty of Medicine, College of Health Sciences, Nnamdi Azikiwe University, Nnewi campus, Nnewi, Nigeria

Correspondence
Chioma N. P. Mbachu, Department of Abstract
Paediatrics, Faculty of Medicine, College of
Fragile X syndrome (FXS) is a significant cause of intellectual disability and autism,
Health Sciences, Nnamdi Azikiwe University,
Nnewi Campus, Nnewi 435101, Anambra while Fragile X Premutation -Associated Conditions (FXPAC) are a significant cause
State, Nigeria.
of morbidity and mortality globally. This study assessed the level of knowledge and
Email: [email protected]
perceptions about FXS and FXPAC among doctors in Nigeria. It was a web-based,
Randi Hagerman, University of California
Davis MIND Institute, Sacramento, CA, USA. cross-sectional study conducted among a cohort of doctors in Nigeria. Socio-
Email: [email protected]
demographic profile, knowledge of FXS, perceptions about FXS, knowledge of
FXPAC, experience of doctors, and suggested ways of improving knowledge and
management of FXS were obtained. Data were analyzed using STATA 16.0. Chi-
square and Fisher's exact tests of association were used to determine the association
between variables, with the significance level set at p < 0.05. A total of 274 doctors
participated in the study. A significant proportion of respondents had limited knowl-
edge about the clinical features of FXS. Nine of ten (90.0%) participants with good
knowledge of FXS had good perceptions of FXS management. This was statistically
significant (p < 0.001). There was a high nonresponse rate to what FXPAC is
(164/274, 59.9%) among the respondents because of insufficient knowledge.

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© 2024 The Author(s). Clinical Genetics published by John Wiley & Sons Ltd.

56 wileyonlinelibrary.com/journal/cge Clinical Genetics. 2025;107:56–66.

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MBACHU ET AL. 57

Suboptimal knowledge of FXS which influenced perception was noted among doc-
tors. More strategies should be considered to improve doctors' knowledge and man-
agement of FXS and FXPAC in Nigeria.

KEYWORDS
doctors, experience, fragile X knowledge, FXS and FXPAC, Nigeria, perception

1 | I N T RO DU CT I O N reported low levels of awareness and knowledge about FXS and FXPAC,
suggesting a need for increased education and resources for medical
Fragile X Syndrome (FXS) is an X-linked dominant genetic disorder known practitioners to effectively recognize and manage these conditions.
to be the leading cause of inherited intellectual disability and autism.1,2 The lack of knowledge about FXS and FXPAC among medical
The molecular pathologic mechanism of FXS is linked to the doctors can significantly negatively impact affected individuals and
expansion of the cytosine-guanine-guanine (CGG) repeats in the 50 their families, resulting in delays in accessing appropriate care and
region of the Fragile X messenger ribonucleoprotein 1 (FMR1) gene, support. Discrimination and stigmatization of individuals with FXS and
leading to the silencing of the gene and a decrease in the production FXPAC can further worsen the challenges they face in their daily lives.
of the FMR1 Protein (FMRP).3–5 FMRP is essential for normal brain To mitigate the possible negative outcomes resulting from medi-
1,2,6,7
development and other bodily functions. FXS occurs when there cal doctors' inadequate understanding of FXS, it is crucial to rectify
is a full mutation (>200 CGG repeats) in the FMR1 gene.8 FXS affects these knowledge deficiencies and improve awareness of these disor-
1 in 4000 males and 1 in 8000 females and is typically diagnosed in ders within the healthcare community. This study not only highlights
early childhood based on clinical symptoms and genetic testing.1,5 the need for healthcare providers to have a better understanding of
An additional group of disorders called Fragile X Premutation Asso- these conditions to support individuals and families affected by FXS
ciated Conditions (FXPAC) is in the family of Fragile X-associated disor- and FXPAC effectively,24,26 but also aimed to evaluate the knowledge
ders, but occurs when the FMR1 gene has a smaller mutation; and perceptions about FXS and FXPAC among medical doctors in
trinucleotide expansion in the FMR1 gene (from 55 to 200 CGG repeats) Nigeria, the most populous country in Africa.27 By improving medical
but still allows for some production of the FMRP protein, albeit some- doctors' knowledge and perceptions about FXS and FXPAC, there
times at lower levels when repeats are over 120.9,10 FXPAC can lead to may be effective management and improved quality of life for
a variety of physical and mental health issues, including neurological affected individuals and their families.
problems like tremors, balance issues, infertility, memory loss, anxiety,
depression, chronic fatigue, chronic pain, and sleep problems.10–13
FXPAC includes some disorders like the Fragile X-associated Tremor 2 | M A T E R I A L S A N D M ET H O D S
Ataxia syndrome (FXTAS), Fragile X-associated primary ovarian insuffi-
ciency (FXPOI), and Fragile X-associated neuropsychiatric disorders The study was a web-based, cross-sectional survey of consenting
1,10
(FXAND). These individual disorders have varied symptoms which medical doctors, resident in Nigeria, conducted from 9th March 2024
increase morbidity and mortality for the individual and their families. For to 4th May 2024.
example, FXTAS develops in later adulthood, usually after 50 years of
age, and is a progressive neurological disorder that affects balance, coor-
dination, and cognitive function.10,14–17 FXPOI, on the other hand, is 2.1 | Sample size
associated with infertility and premature menopause in women and
should be considered in those being evaluated for infertility.10,12 The sample size was calculated using the formula28 n = Z2P(1P)/d2,
FXAND presents with symptoms of neuropsychiatric illness like anxiety, where n is the minimum sample size, Z is the normal standard deviate cor-
1,10,12,18
depression, sleep disorders, chronic pain, and chronic fatigue. responding to a significance level. For a significance level/precision of %,
Several clinical checklists have however been proposed to aid Z = 1.96, P is the estimated proportion (of healthcare providers with cor-
diagnosis in affected persons.19–23 rect knowledge of FXS) from a previous study set at 20%.26 This gave a
Understanding the knowledge and perceptions about FXS and minimum sample size of 246. An additional 10% attrition was added for
FXPAC among medical practitioners is vital for ensuring timely diag- incorrectly filled questionnaires, giving a calculated sample size of 273.
nosis, appropriate treatment, and support for individuals and families
impacted by these conditions.
Some authors have reported that many practitioners were unfamil- 2.2 | Study instrument and data collection
iar with FXS and premutation disorders (55–200 CGG repeats), and
lacked confidence in their ability to diagnose and manage these condi- An online, semi-structured, self-administered questionnaire was
tions.24,25 Additionally, a survey of physicians by Budimirovic et al25 adapted and modified from Protic et al.26 Content validity of the
 13990004, 2025, 1, Downloaded from https://onlinelibrary.wiley.com/doi/10.1111/cge.14619 by Nigeria Hinari NPL, Wiley Online Library on [10/02/2025]. See the Terms and Conditions (https://onlinelibrary.wiley.com/terms-and-conditions) on Wiley Online Library for rules of use; OA articles are governed by the applicable Creative Commons License
58 MBACHU ET AL.

questionnaire was done by experts before the eventual distribution of TABLE 1 Sociodemographic characteristics of participants.
the questionnaires. It was shared using a link (Google form link) shared Frequency Percentage
by the researchers (medical doctors), using WhatsApp Messenger Variable (N = 274) (%)
(Facebook, Inc., California, Menlo Park, USA), and electronic mails Gender Male 133 48.5
(emails) to various doctors' social media fora and personal mobile Female 141 51.5
phones. Only consenting medical doctors in Nigeria were eligible for
Age 21–30 44 16.1
this study. Google Form was opted for because of its instant messag-
31–40 139 50.7
ing, cloud storage, and easy accessibility, retrieval, and analysis of data
41–50 75 27.4
obtained. The questionnaire was divided into three sections; sociode-
51–60 12 4.4
mographic profile of participants; Knowledge of FXS (9 semi-
61–70 4 1.6
structured items), Factual knowledge of FXPAC (4 items, 2 structured
and 2 unstructured), and perceptions about FXS (3 semi-structured Mean 38.1 ± 7.6
± STD
items). It also asked 1 question on suggestions for improving knowl-
Marital status Single 62 22.6
edge and management of FXS and FXPAC among doctors in Nigeria.
Married 209 76.3
Questions asked under the sociodemographic characteristics were
age at last birthday, gender, marital status, presence of relative or fam- Widowed 3 1.1

ily member with an intellectual or behavioral disorder, duration of Years of practice <5 years 47 17.2
practice, specialty, location of practice, type of institution of practice, 5–10 years 78 28.5
and prior genetic training. The questions asked for Knowledge of FXS 10 years 149 54.4
included awareness of the disorder, what the disorder is (open-ended), and above

its cause, physical features, behavioral features, percentage of FXS Geopolitical zone where South east 108 39.4
you practice
who have autism, FXS as the most common cause of inherited intel-
lectual disability, diagnosis, and management. For Knowledge of FXS, South– 55 20.1
south
each correct answer was given 1 point, while an incorrect response,
Southwest 54 19.7
“don't know” or “maybe” was given 0 points. The total score for
knowledge was 9, classified using Bloom's scoring for Knowledge, North 57 20.8

Attitude and Practice (KAP) studies as Good (80%–100% or >7 cor- Type of practice Tertiary 204 74.5
facility
rect answers), fair (60%–79% or 5–7 correct answers), poor (<60% or
Secondary 23 8.4
0–4 correct answers). Each correct item was given 1 point, while an
facility
incorrect or ‘don't know’ response was given 0 points. Similarly, ques-
Primary 47 17.1
tions asked for Knowledge of FXPAC were about what FXPAC is, clin-
healthcare
ical features (6 correct items), investigation to confirm FXPAC, and
Specialty Pediatrics 82 29.9
treatment of FXPAC. Each correct item was given 1 point, while an
Obstetrics 43 15.7
incorrect or “don't know” response was given 0 points. The total
and
response for knowledge of FXPAC was 9. This was also classified Gynecology
using Bloom's scoring for KAP studies. Other 114 41.6
Questions asked under perception were “When I see a patient who physicians
has an intellectual disability, I will recommend screening for FXS”; “When Surgery 35 12.8
I see a patient who has autism, I will recommend screening for FXS”; and Relative/family member Yes 57 20.8
“I am willing to recommend gene therapy for FXS.” This section was has intellectual or No 217 79.2
scored as good (3 correct answers), average (2 correct answers) or poor behavioral disorder

(0–1 correct answer). Questions on Factual knowledge of FXS and doc-

tors' experiences with people living with FXS were also obtained. Ques-
tions on knowledge and perceptions were coded in Microsoft Excel Ethics and Research Committee of Chukwuemeka Odumegwu
before they were entered into STATA 16.0 for data analysis. Ojukwu University Teaching Hospital, Anambra State (COOUTH/
The Google form was turned off to stop receiving responses after CMAC/ETH.C/VOL.1/FN:04/321). Informed consent was obtained
the required sample size had been obtained. Then, data downloaded before the study and there was no financial inducement.
from the Google form were cleaned up in Microsoft Excel before anal-
ysis. Incorrectly filled forms were excluded from the data analysis
(Nigerian physicians practicing outside Nigeria who filled out the 3 | DATA ANALYSIS
questionnaires). Nonresponse answers were classified as “don't
know.” The study followed the guidelines according to the Declara- Data were analyzed using STATA 16.0 software (Stata Corp Col-
tion of Helsinki. Ethical approval for the study was obtained from the lege Station, Texas, USA). Numerical variables in the dataset
 13990004, 2025, 1, Downloaded from https://onlinelibrary.wiley.com/doi/10.1111/cge.14619 by Nigeria Hinari NPL, Wiley Online Library on [10/02/2025]. See the Terms and Conditions (https://onlinelibrary.wiley.com/terms-and-conditions) on Wiley Online Library for rules of use; OA articles are governed by the applicable Creative Commons License
MBACHU ET AL. 59

TABLE 2 Knowledge of fragile X syndrome among participants.

Frequency Percent
(N = 274) (100.0%)
Heard about FXS Yesa 239 87.2
No 35 12.8
Total 274 100.0
What is Fragile X Syndrome? Don't know/can't recall 66 24.1
It's a genetic disorder (no further detail) 57 20.8
Deletion of chromosome 22 1 0.4
Genetic disease characterized by reduced intellectual ability. 111 40.5
A genetic disorder affecting the Fragile X ribonucleic acid 1a 13 4.7
It is a genetic disorder that is associated with mental retardation/menstrual 2 0.7
disorders/subfertility
Fragile X syndrome, also termed Martin-Bell syndrome or marker X syndrome, is 21 7.7
the most common cause of inherited mental retardation, intellectual disability, and
autisma
It is a genetic condition that leads to certain physical body anomalies 3 1.1
Total 274 100.0
What is the cause of FXS Genetic mutationa 254 92.7
Infectious agents 1 0.4
Unknown 19 6.9
Total 274 100.0
Characteristic physical features of I don't know 60 21.9
FXS
Large testicles, large ears, long face, soft skin, hyperextensible jointsa 122 44.5
Microcephaly, prominent jaw, coarse skin, prominent ears 69 25.2
Micrognathia, microcephaly, protuberant abdomen, macroorchidism 23 8.4
Total 274 100.0
Common behavioral features I don't know 69 25.2
Gaze aversion 12 4.4
Hand flapping 36 13.1
Hand biting 6 2.2
b and c only 20 7.3
All of the optionsa 131 47.8
Total 274 100.0
Percentage of FXS cases have 5% 16 5.8
autism spectrum disorders?
10% 28 10.2
a
60% 17 6.2
80% 5 1.8
No response (don't know) 208 75.9
Total 274 100.0
Diagnosis of FXS is by I don't know 26 9.5
Physical examination 10 3.6
Blood tests 9 3.3
Genetic testinga 227 82.8
X-ray imaging 2 0.7
Total 274 100.0
FXS is the most common inherited Truea 97 35.4
cause of intellectual disability

(Continues)
 13990004, 2025, 1, Downloaded from https://onlinelibrary.wiley.com/doi/10.1111/cge.14619 by Nigeria Hinari NPL, Wiley Online Library on [10/02/2025]. See the Terms and Conditions (https://onlinelibrary.wiley.com/terms-and-conditions) on Wiley Online Library for rules of use; OA articles are governed by the applicable Creative Commons License
60 MBACHU ET AL.

TABLE 2 (Continued)

Frequency Percent
(N = 274) (100.0%)
False 79 28.8
Maybe 91 33.2
No response 7 2.6
Total 274 100.0
FXS is managed by I don't know 71 25.9
Psychopharmacological therapya 179 65.3
Behavioral treatment only 21 7.7
Pharmacological 3 1.1
Total 274 100.0

Note: Correct responses were written in bold characters.

a
Correct response.

(age) were summarized using mean and standard deviation. Fur- 5 | K N O W L E D G E OF F X S A M O N G

ther categorization of age, type of practice, location of practice, DOCTORS IN NIGERIA
and specialty was done during the analysis. Categorical variables
like gender, marital status, close relative or friend with intellec- Among the doctors interviewed, only 10/274 (3.6%) of them had a
tual disability, duration of practice, area of specialization, loca- good knowledge of FXS. Less than half of the respondents (134/274,
tion of practice, type of practice (classified into tertiary, 48.9%) had a good perception of FXS management. Although
secondary, and primary centres), prior genetic training, knowl- 239/274 (87.2%) had heard about FXS, 66/274 (24.1%) of them could
edge of FXS and perceptions about FXS were summarized using not recall or didn't know the definition of FXS. Twenty-one of them
frequency and percentage. Factual knowledge of FXS and doc- associated Fragile X with mental retardation, intellectual disability,
tors' experiences with people living with FXS were determined, and autism, while when asked the cause of FXS, 254/274 (92.7%)
categorized into themes, and summarized using frequency and rightly attributed it to genetic mutation while as much as 19/274
percentages. (6.4%) attributed it to unknown causes. As many as 60/274 (21.8%) of
Cross tabulation was used to evaluate the relationship between them didn't know the characteristic clinical features of FXS, with only
socio-demographic variables (age category, gender, marital status, 122/274 (44.5%) citing large testicles, large ears, long faces, soft skin,
close relative/family member with intellectual disability, duration of and hyperextensible joints as characteristic physical features of FXS.
practice, area of specialization, type of practice, and location of prac- When asked about the percentage of FXS cases with autism spectrum
tice) and knowledge, and perceptions using Chi-square. Fisher's exact disorders, only 17/274 (6.2%) respondents correctly answered the
test was applied where necessary. The level of significance for tests percentage as 60%. In terms of the management modality, 71/274
of the association was set at a p-value of less than 0.05. Cross- (25.9%) did not know how FXS is managed. Only 4 out of the 9 ques-
tabulation was also used to assess the association between knowl- tions on knowledge of FXS were positively/correctly answered by
edge and perception. 50.0% of the respondents. The questions with very poor correct
scores were those on the definition of FXS (n = 34, 12.4%), character-
istic physical features (n = 122, 44.5%), and percentage of FXS cases
4 | RESULTS with autism spectrum disorders (n = 17, 6.2%). See Table 2 and Sup-
plementary material.
Two hundred and seventy-four doctors participated in this study,
with 133/274 (48.5%) respondents being males, giving a male-
to-female ratio of 0.9: 1. The age range of participants was 25– 5.1 | Relationship between sociodemographic
70 years, with a mean age of 38.1 ± 7.6 years. More than half of profile and knowledge and perceptions of FXS among
the participants (n = 149/274, 54.4%) had practiced medicine for participants
10 or more years. One hundred and eight respondents (39.4%)
were from the southeastern region, while 82/274 (29.9%) One hundred and three participants (37.6%) had a poor knowledge of
worked in the Pediatric specialty. Fifty-seven participants FXS, 161/274 (58.8%) had a fair knowledge,10/274 (3.6%) had good
(20.8%) had a relative or family member who had intellectual dis- knowledge. One hundred and thirty-four participants (48.9%) had a
ability (Table 1). good perception, 48 (17.5%) had a fair perception, while about a third
 13990004, 2025, 1, Downloaded from https://onlinelibrary.wiley.com/doi/10.1111/cge.14619 by Nigeria Hinari NPL, Wiley Online Library on [10/02/2025]. See the Terms and Conditions (https://onlinelibrary.wiley.com/terms-and-conditions) on Wiley Online Library for rules of use; OA articles are governed by the applicable Creative Commons License
MBACHU ET AL. 61

TABLE 3 Relationship between knowledge of fragile X syndrome and sociodemographic factors.

Variable Poor (%) Fair (%) Good (%) Total (100%) p-Value
Age range 0.304*
21–30 22 (50.0) 20 (45.5) 2 (4.5) 44.0
31–40 49 (35.3) 84 (60.4) 6 (4.3) 139
41–50 28 (37.3) 46 (61.3) 1 (1.3) 75
51–60 4 (33.3) 7 (58.3) 1 (8.3) 12
61–70 0 (0.0) 4 (100.0) 0 (0.0) 4
Total 103 161 10 274
Gender 0.604
Male 47 (35.3) 82 (61.7) 4 (3.0) 133
Female 56 (39.7) 79 (56.0) 6 (4.3) 141
Total 103 161 10 274
Marital status
Single 27 (43.6) 33 (53.2) 2 (3.2) 62 0.793
Married 75 (35.9) 126 (60.3) 8 (3.8) 209
Widowed 1 (33.3) 2 (66.7) 0 (0) 3
Total 103 161 10 274
Relative has intellectual/behavioral disorder
Yes 22 (38.6) 32 (56.1) 3 (5.3) 57 0.735
No 81 (37.3) 129 (59.5) 7 (3.2) 217
Total 103 161 10 274
Years of practice
<5 years 22 (46.8) 23 (48.9) 2 (4.3) 47 0.402
5–10 years 24 (30.8) 52 (66.7) 2 (2.5) 78
10 years and above 57 (38.3) 86 (57.7) 6 (4.0) 149
Total 103 161 10 274
Geopolitical zone
Southeast 34 (31.5) 69 (63.9) 5 (4.6) 108 0.727*
South–south 23 (41.8) 31 (56.4) 1 (1.8) 55
Southwest 21 (38.9) 31 (57.4) 2 (3.7) 54
North 25 (43.9) 30 (52.6) 2 (3.5) 57
Total 103 161 10 274
Specialty
Pediatrics 27 (32.9) 52 (63.4) 3 (3.7) 82 0.895*
Obstetrics and Gynecology 18 (41.9) 24 (55.8) 1 (2.3) 43
Other physicians 42 (36.8) 67 (58.8) 5 (4.4) 114
Surgery 16 (45.7) 18 (51.4) 1 (2.9) 35
Total 103 161 10 274
Type of practice
Tertiary facility 73 (35.8) 125 (61.3) 6 (2.9) 204 0.160
Secondary facility 12 (52.2) 11 (47.8) 0 (0.0) 23
Primary facility 18 (38.3) 25 (53.2) 4 (8.5) 47
Total 103 161 10 274
Had training in genetics
Yes 40 (36.4) 65 (59.1) 5 (4.5) 110 0.786
No 63 (38.4) 96 (58.5) 5 (3.1) 164
Total 103 (37.6) 161(58.8) 10 (3.6) 274

*Fisher's exact value.

 13990004, 2025, 1, Downloaded from https://onlinelibrary.wiley.com/doi/10.1111/cge.14619 by Nigeria Hinari NPL, Wiley Online Library on [10/02/2025]. See the Terms and Conditions (https://onlinelibrary.wiley.com/terms-and-conditions) on Wiley Online Library for rules of use; OA articles are governed by the applicable Creative Commons License
62 MBACHU ET AL.

(33.6%) had a poor perception of FXS. There was no significant differ- T A B L E 4 Doctors' Perception of fragile X syndrome (FXS) and
ence in the level of knowledge of FXS and the sex, age category, or experience with people living with FXS.

type of practice of participants respectively ( p > 0.05) (Table 3). Percent

Frequency (%)
Have you ever treated or Yes 8 2.9
5.1.1 | Doctors' perception of FXS and experience diagnosed a patient with No 266 97.1
Fragile X syndrome?
with people living with FXS
How often do you see Never 248 90.5
cases of FXS in your 1/year 18 6.6
Over half of the doctors (61.3%) responded that they would recom-
practice?
mend screening for FXS if a patient had an intellectual disability, while 1/6 months 7 2.6
most participants (n = 233, 85.0%) were willing to recommend gene 1/month 1 0.4
therapy for FXS. Most participants (n = 266, 97.1%) had never diag- How is the diagnosis of Don't know/ 190 69.3
nosed or treated a patient with FXS. More than two-thirds of respon- FXS made in your practice? never seen
one
dents (n = 190, 69.3%) did not know how a diagnosis of FXS is made
(Table 4). Clinical/ 30 10.9
physical exam
Genetic 45 16.4
Clinical and 8 2.9
5.1.2 | Relationship between participants'
genetic
Knowledge and perception of FXS
Imaging 1 0.4
What happens to cases of Case is 143 52.2
Most participants with a good knowledge of FXS had a significantly
FXS in your practice? referred
good perception of FXS management (See Table 5).
Case is 27 9.9
managed or
treatment
5.1.3 | Knowledge and experience with FXPAC given
No response 104 38.0
All participants (n = 274, 100.0%) had a poor knowledge of FXPAC. A When I see a patient who = =
few participants (n = 21, 7.7%) identified FXTAS as a disorder consti- has an intellectual
tuting FXPAC, while 11 participants (4.0%) felt it was the same as disability, I will recommend
screening for Fragile X
FXS. See Table 6.
syndromea

When I see a patient who

5.1.4 | Improving the knowledge and management has autism, I will
of FXS and FXPAC in Nigeria recommend screening for
Fragile X syndromea
More than two-thirds of the participants (n = 192, 70.1%) suggested Neutral 84 30.6
incorporating FXS/FXPAC into the curriculum of medical education, I am willing to recommend Yes 233 85.0
while about 166/274 (60.6%) gave suggestions on how to improve gene therapy for Fragile X
syndrome if it becomes
the knowledge and management of FXS in Nigeria (Table 7).
availablea
No 4 1.5
Neutral 37 13.5
6 | DISCUSSION
Total 274 100.0
a
Our findings showed that most doctors' (96.4%) had a suboptimal Participants' perception of FXS.
(poor or average) knowledge of FXS, more than half of participants
studied (51.1%) had a poor perception of FXS, while all
participants had a poor knowledge of FXPAC. In another study by features, diagnosis and management. Budimirovic et al.25 in their sur-
26
Protic et al. among senior medical students in Serbia, Georgia and vey of physicians and medical students knowledge, attitudes and prac-
Colombia, overall, they observed poor knowledge in about 80% of tice of FXS and FXPAC in Serbia found low knowledge levels among
participants. They explored knowledge of FXS from the perspective of both groups of participants, with knowledge of FXPAC being higher
onset of FXS symptoms, early treatment in FXS, onset, frequency and among medical students (53.5%) compared to physicians (41.2%). Our
types of pharmacotherapy for FXS in contrast to our study that study was conducted among only physicians and found that all partici-
assessed knowledge of what the condition is, etiology, clinical pants (n = 274100.0%) had poor knowledge of FXPAC although there
 13990004, 2025, 1, Downloaded from https://onlinelibrary.wiley.com/doi/10.1111/cge.14619 by Nigeria Hinari NPL, Wiley Online Library on [10/02/2025]. See the Terms and Conditions (https://onlinelibrary.wiley.com/terms-and-conditions) on Wiley Online Library for rules of use; OA articles are governed by the applicable Creative Commons License
MBACHU ET AL. 63

T A B L E 5 Relationship between
Perception(%)
participants' knowledge of fragile X Poor Fair Good Total p-Value
syndrome (FXS) and perception of FXS
management. Knowledge
Poor 56 (54.4) 18 (17.5) 29 (28.2) 103 (100.0) <0.001*
Fair 36 (22.4) 29 (18.0) 96 (59.6) 161 (100.0)
Good 0 (0.0) 1 (10.0) 9 (90.0) 10 (100.0)
Total 92(33.6) 48 (17.5) 134 (48.9) 274 (100.0)

*Significant p-value.

TABLE 6 Knowledge and experience with fragile X premutation-associated conditions.

Frequency Percentage
What are Fragile X premutation-associated conditions Autism 33 12.0
and disorders that constitute it? Fragile X-associated tremor/ataxia syndrome (FXTAS) 21 7.7
Fragile X-associated primary ovarian insufficiency (FXPOI) 16 5.8
Fragile X-syndrome 11 4.0
Intellectual disability 5 1.8
These are conditions with genetic mutations similar to but 6 2.2
not as encompassing as fragile X.*
Angelman syndrome 1 0.4
Conditions associated with the fragile X genetic changes* 17 6.2
No response (don't know) 164 59.9
Enumerate the clinical features of FXPAC: Tremors/ataxia* 26 9.5
Intellectual disability 43 15.7
Autism/abnormal behaviors 29 10.6
Delay in developmental milestones 12 4.4
Large ears 12 4.4
Gonadal failure* 17 6.2
Long faces 12 4.4
Anxiety/depression/sleep disorder/fatigue* 13 4.7
Chronic pain* 4 1.5
Hyperthyroidism/autoimmune diseases 4 1.5
Microcephaly 8 2.9
Hypermobile joint 5 1.8
No response (don't know) 89 32.4
What investigations are specific for FXPAC? Physical Examination 1 0.4
Genetic testing* 79 28.8
Sex hormone assay 3 1.1
Imaging 3 1.1
Urine testing 1 0.4
No response (don't know) 187 68.2
What happens to cases of FXPAC in your practice? Case is referred 143 52.2
Case is managed or treatment given 21 7.7
No answer 110 40.1
Total 274 100.0

*Connotes participants' are most correct responses.

were differences in the methods of assessment among the studies. the low level of knowledge of FXS could be that these countries are
From our literature search, no study has been done exclusively to developing nations with limited resources for diagnosis, with more
assess physicians' knowledge of FXPAC. A possible explanation for focus on other diseases and conditions that have facilities for testing.
 13990004, 2025, 1, Downloaded from https://onlinelibrary.wiley.com/doi/10.1111/cge.14619 by Nigeria Hinari NPL, Wiley Online Library on [10/02/2025]. See the Terms and Conditions (https://onlinelibrary.wiley.com/terms-and-conditions) on Wiley Online Library for rules of use; OA articles are governed by the applicable Creative Commons License
64 MBACHU ET AL.

T A B L E 7 Improving knowledge and management of fragile X like that in other parts of the world at 1:4000–8000 persons.1,5 This
syndrome and fragile X premutation-associated conditions in Nigeria. implies that for a populous country like Nigeria with over 200 million
Frequency Percentage inhabitants, over 50,000 people have FXS. The poor perception of
(n = 274) (%) FXS among participants is surprising since one would have expected
FXS/FXPAC should Yes 192 70.1 doctors to champion the cause to identify people affected by FXS
be part of our No 6 2.2 who would benefit from early intervention and management. Less
curriculum in medical
Neutral 76 27.7 than two-thirds of the participants were willing to recommend
education
screening for FXS in people with ID, or autism also evident in their
Enumerate your Part of 81 29.6
responses to the questions assessing knowledge of FXS, further sug-
suggestions for curriculum and
improving health gesting their low level of knowledge of the relationship between
knowledge and education FXS, ID, and autism. There is a high burden of intellectual disability
management of Awareness 51 18.6 and neurodevelopmental disorders like autism in Nigeria.29 It is pos-
FXS/FXPAC among programs sible that some of these disorders may be associated with FXS, stres-
doctors in Nigeria
Provision of 14 5.1 sing the urgent need to improve Nigerian doctors' knowledge and
diagnostic tools perceptions of this disorder. However, the participants' level of
Provision of 10 3.6 knowledge significantly influenced their perceptions of FXS. This
treatment
further stresses the importance of improving knowledge of partici-
facility
including pants as this would enable them manage patients better. It is impor-
counseling tant to note that most participants (85.0%) were willing to
Screening for 5 1.8 recommend gene therapy for FXS when it becomes available. This
disease highlights doctors' inherent need to seek cures for any medical con-
Research and 3 1.1 dition that may affect their patients.
publication Participants suggested ways of improving the knowledge and
Not important 2 0.7 management of FXS/FXPAC among doctors in Nigeria including incor-
because it's rare
porating FXS/FXPAC into the curriculum of medical education. The
No response 108 39.4 need to strengthen the medical curriculum in Nigeria by introducing
topics on genetic disorders and neurodevelopmental disorders has
been highlighted in a previous study. In a study on the knowledge of
The poor knowledge of FXPAC is not surprising because FXPAC is still autism among a cohort of Nigerian doctors, the introduction of autism
an evolving condition that is not widely known even among experts in in the medical curriculum was identified as a strong modality for bridg-
developed countries. More than half of the study participants could ing the identified knowledge gap.30 Other suggestions by participants
not correctly identify characteristic clinical features or define were awareness campaign strategies, screening and treatment facili-
FXS/FXPAC, highlighting the need to create more awareness among ties, and more research and publications on FXS/FXPAC. These sug-
physicians who are usually the leaders of the health team in Nigeria. gested strategies are helpful in the improvement of knowledge of
This can be achieved by introducing genetic disorders like several disease conditions.31–34
FXS/FXPAC in the curriculum of the undergraduate medical educa-
tion, conducting more conferences and webinars on FXS/FXPAC, and
providing resources for physicians. None of the sociodemographic 7 | CONC LU SION
factors had a significant relationship with the level of knowledge of
FXS. This suggests that sociodemographic background may not influ- Our study showed a suboptimal level of knowledge of FXS and
ence Nigerian doctors' knowledge of an unexplored disorder like FXS FXPAC, and suboptimal perception about FXS among participating
thereby reiterating the need for refresher courses and specific training Nigerian doctors, and that having a higher level of knowledge of FXS
to create awareness. significantly influenced doctors' perception of FXS. However, most
From the doctors' experience with people with FXS/FXPAC, we participants were willing to suggest ways to improve doctors' knowl-
found that most participating doctors had never seen a person with edge and management of FXS/FXPAC. Thus, there is a need to con-
FXS (90.1%), nor diagnosed and treated any affected person (97.1%). sider these proven available strategies to improve the knowledge and
More than half of the participants (52.2%) referred cases suspected management of FXS/FXPAC in Nigeria.
to be FXPAC. FXS is seen as a rare disorder in Nigeria, but the ques-
tion remains, is it really rare? Doctors who may have responded that
they had never seen a patient with FXS may have seen but been 8 | LIM I TAT I ON S
unable to identify their clinical and behavioral characteristics, in
addition to the scarcity of screening and testing facilities in the This study was a web-based one and so, it was difficult to access doc-
country. The estimated prevalence of FXS in Africa is thought to be tors who did not have mobile phones, or those in remote areas that
 13990004, 2025, 1, Downloaded from https://onlinelibrary.wiley.com/doi/10.1111/cge.14619 by Nigeria Hinari NPL, Wiley Online Library on [10/02/2025]. See the Terms and Conditions (https://onlinelibrary.wiley.com/terms-and-conditions) on Wiley Online Library for rules of use; OA articles are governed by the applicable Creative Commons License
MBACHU ET AL. 65

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