Mental disorders, musculoskeletal diseases (MSDs) and their comorbidities are major threats to work and functional ability. The relationship between mental health and the common MSDs has not received enough attention

To study the socio-professional characteristics of workers suffering from work related MSD

To evaluate the association of work related MSDs with anxiety and depression disorders

A descriptive cross-sectional study conducted among workers with work-related MSDs who consulted the occupational medicine department of the Charles Nicolle Hospital between January 2022 and September 2022. A remote survey was conducted among these workers to screen for anxiety and depressive disorders using the Hospital anxiety and Depressive Scale

The study population consisted of 54 workers with MSDs with a sex ratio (M/F) of 0.74. The average age was 44.4 [27-61 years]. The average professional seniority was 14.9 years±7 years and the sectors with the highest prevalence of MSDs were the health sector (22%), the food industry (13%) and the textile industry (11%). The workers reported MSDs of the lumbar spine in 61%, gonarthrosis in 31%, followed by MSDs of the upper limb in 25%. The prevalence of anxiety and depressive disorders were respectively 46% and 38%. There was no significant association between socio-demographic factors and anxiety depressive disorders. The anxiety disorder was associated with MSDs of the lumbar spine (p: 0.05; OR: 0.32 CI95% [0.1-1.09]).

Anxiety and depressive disorders were common among workers with MSDs related to work. Interventions targeting psychological distress and work-related psychosocial characteristics may reduce their musculoskeletal pain.

None Declared

Congenital muscular dystrophies (CMDs) represent a heterogeneous group of early-onset muscle disorders presenting primarily with hypotonia and delayed motor development. Several genes are known to be responsible for CMDs, including the LAMA2 gene, involved in merosin-deficient type 1A (MDC1A), and the FKRP gene involved in muscular dystrophy-dystroglycanopathy type B5 (MDDGB5). These two forms of CMD are autosomal recessive and are each characterized by the presence of a mutation with a founder effect in South Tunisia. Cognitive development associated with the founder mutation in the LAMA2 gene (c.8007delT) is often conserved, whereas in the founder mutation of the FKRP gene (c.1364 C>A), motor impairment is associated with intellectual disability (ID).

To compare the psychological impact of motor impairment in children presenting these two forms of CMD and their families.

The study consisted of a survey of parents of children with a confirmed diagnosis of MDC1A (5 from 3 unrelated families) or MDDGB5 (3 from 3 unrelated families). The correspondent founder mutation was already identified in the homozygous state by targeted sequencing. Participants’ parents completed the Parent Strengths and Difficulties Questionnaire (SDQ), a behavioral screening tool designed for children aged from 2 to 17 years. The SDQ assesses emotional symptoms, behavior problems, hyperactivity, and peer relationships; The SDQ Impact Supplement assesses the impact of all these children’s difficulties on their families.

The average age of the children was 4.95±3.92 with two children who were not assessable by the SDQ (age< 2 years). Unlike children with MDC1A, ID has been reported in all children with MDDGB5. The mean SDQ total score for children with MDC1A was 11, whereas the mean score for children with MDDGB5 was 14.875, reflecting greater difficulty for children with MDDGB5. The family impact score was higher in families with children with MDDGB5 than in children with MDC1A (10,5 vs 7), which may be due to the burden of management of the ID associated with the motor impairment. The more pronounced difficulties associated with MDDGB5 are likely to be related to the associated ID. Whereas in MDC1A, the difficulties observed are related to the direct impact of the motor impairment. The presence of cognitive disorders associated with a motor deficit aggravates behavioral adaptation and makes the management of these children more difficult.

In the absence of a comparable study in the literature, the present is conducting future studies on the behavioral profile of children with CMD to obtain a better understanding of their difficulties in everyday life and to develop interventions adapted to their families

None Declared

Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder with many contributing risk genes. Multiple intellectual disability (ID) susceptibility genes have been identified in ASDs to date. The trafficking protein particle complex subunit 9 TRAPPC9 (OMIM#611966) in an autosomal recessive intellectual disability (ID) gene associated with not fully penetrant phenotype combining secondary microcephaly, dysmorphic facial features, obesity, autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD).

The aim of this study is to consider TRAPPC9 deficiency in autosomal recessive ID with ASD.

We present the observation of two siblings, born to Tunisian consanguineous and healthy parents, followed up for syndromic intellectual disability (ID) associated ASD and microcephaly. A clinical exome sequencing was performed to one child using a Trusight One kit of Illumina. We used sanger sequencing to validate the suspected variant for the other child and to specify the parental segregation.

A homozygous pathogenic variant in the TRAPPC9 (NM_001160372.4) gene, c.1414C > T (p. Arg472Ter) were identified in one child. Sanger sequencing confirmed the homozygosity profile of this variant for the other child while the parents were both heterozygous carriers.

Repetitive behaviours, especially hand-flapping, were the mean ASD feature in our patients. The current variant is known in the Tunisian population. It is described to lead to the creation of a premature stop codon and a truncating protein causing a TRAPPC9 deficiency. The impairing neuronal NFkB signalling due to TRAPPC9 deficiency has been suggested to be implicated in ASD. Due to the profound ID seen in both patients, we suggest the classification of ASD related to TRAPPC9 deficiency as “secondary” rather than “primary”.

Our results support the implication of TRAPPC9 in secondary ASD and shed the light on the possibility of screening p. Arg472Ter in Tunisian patients with this form of ASD as it is a recurrent mutation in the Tunisian population.

None Declared

Absenteeism from work is considered to be a major source of disorganization and professional marginalization. Psychiatric leave is a frequent form of absenteeism in the hospital environment requiring medical control of the ability to work in order to detect certain abusive prescriptions or certain psychological disorders that can be professionally disabling.

To draw up the socio-demographic, professional and clinical profile of the health care workers examined within the framework of a medical examination of the aptitude for work following a psychiatric sick leave.

To determine the medical fitness-for-duty decisions in interaction with the prescribed psychiatric leave

Retrospective descriptive study on the files of health care personnel who had psychiatric leaves and who were examined in a framework of multidisciplinary medical commission of absenteeism carried out in the department of professional pathology and aptitude for work at the Charles Nicolle Hospital of Tunis. The study period was from January 1, 2020, to October 1, 2022

We collected 63 records. The average age was 44.75 years +/-11.28 years. A female predominance was noticed (71%). The patients were married in 75% of cases with at least one child in charge of 77% of cases. The main professional categories were nurses (29%), workers (24%), followed by anesthesia technicians and medical secretaries (8% each). The average professional seniority was 16.07 years +/- 10.34 years. Psychiatric history was found in 34.9% of the patients, 91% of whom had anxiety-depressive disorders, 4.5% bipolar disorders and 4.5% schizophrenia.

The main psychiatric reasons for the prescribed rest were characterized depressive episodes (75%), obsessive-compulsive disorder (3.2%), bipolar disorder type 2 with psychotic features (3.2%), postpartum major depressive episodes (3.2%) and post-traumatic stress disorder (3.2%). Professional conflicts with colleagues and/or superiors were reported in 21% of cases.

Psychiatric leave was prescribed by a free practice psychiatrist in 90% of cases. The average duration of leave was 50.1 days [14-180] days.

According to the opinion of the multidisciplinary commission, the healthcare professionals were considered fit to resume their professional activities in 59% of the cases, including 9 patients with restrictions (5 cases of eviction from night work, and 1 case of eviction from contact with the public, 1 case of professional reclassification and 1 case of early retirement). The leave was considered justified in 36% of cases for temporary unfitness for work.

The medical examination of fitness for work for health care workers on psychiatric leave remains a delicate decision which can run into numerous difficulties requiring a collegial opinion from the psychiatrist and the occupational physician.

None Declared

Psychoses constitute an extremely heterogeneous clinical entity, with variable medical and socio-professional prognosis depending on several associated factors.

- To describe the socio-professional and medical characteristics of patients with psychotic disorders.

- To study the repercussions of these psychotic disorders on the patients’ medical fitness for work.

Cross-sectional descriptive study of workers with psychotic disorders referred to the consultation of occupational pathology of Charles Nicolle Hospital in Tunis for a medical opinion of fitness during the period from January 2013 to July 2022.

A total of 34 patients were included. The average age was 41.67 ± 10 years. A male predominance was noted with a sex ratio (M/F) of 1.12. Patients with bipolar disorders represented 77% (n=26) of the psychotics versus 23% with schizophrenia (n=8). Two cases had a family history of psychosis. The most represented sector was the health sector in 41% of cases, followed by the tertiary sector in 11.8% of cases. The most prevalent job position was administrative assistant (14.7%). The average professional seniority was 17.07 ± 11.18 years. At the end of the medical aptitude consultation, 17% of the patients (n=6) were considered fit to continue their usual professional activity and 70% of the patients (n=24) had certain restrictions, mainly an exemption from night work in 46% of the cases (n=11) and from security and responsibility functions in 17% of cases (n=4). Temporary unfitness for work was indicated for 18% of patients (n=6) with a median duration of 8 ± 3.46 months. Twenty-three percent (23%) of the patients were judged permanently unfit for their jobs. Early retirement was proposed for five patients. The main diagnosis for permanent unfitness was bipolar disorder (7/8 patients).

The evaluation of the social and professional impact of psychotic disorders is an area of research that requires continuous and periodic re-evaluation.

None Declared

Exposure to organic solvents (SO) is a significant occupational hazard in industrial settings. This can lead to neurobehavioural and physical effects that can affect the quality of life of workers

To assess, using a validated questionnaire, the quality of life of workers exposed to SO.

Cross-sectional descriptive study conducted at the occupational medicine department of the Charles Nicolle Hospital in Tunis, which interested patients exposed to SO who had consulted for a medical opinion on fitness for duty during the period from January 1, 2017 to August 31, 2022. The data collection was carried out by a telephone call using the SF12 questionnaire. Socio-demographic and medical data were completed from medical records.

We identified 51 workers exposed to OS. Thirty-three employees agreed to answer the SF12 questionnaire, for a response rate of 65%. The average age was 44 8 years with a clear male predominance of 75%. The most represented sectors of activity were the automobile industry (34%), followed by the leather and footwear industry (15%) and the plastics industry (12%). The jobs most exposed to SO were manual workers (54%) and painters (9%). The median occupational seniority was 15[10; 23] years. Comorbidities were observed in 72% of employees. The average physical composite score was 48%. The average mental composite score was 49%. The average overall score was 49%. Average quality of life (overall SF12 score above 50) was noted in 60% of the population. Moderate disability (overall SF12 score between 30 and 39) was found in 18% of respondents. Twenty-one percent of workers had a severe disability (overall SF12 score below 30).

In addition to socio-professional conditions, exposure to SO may be implicated in altering the quality of life of exposed workers. This implies the need to strengthen preventive measures in order to preserve the mental and physical health of these workers.

None Declared

Autism Spectrum Disorder (ASD) is a multifactorial neurodevelopmental disorder, with both contribution of genetic and non-genetic factors. A collaboration of de novo mutations and prenatal with postnatal environmental factors are likely to play a role. ASD can be syndromic or non-syndromic. The etiology of non-syndromic ASD is still relatively undefined due to its genetic heterogeneity. Contrary to non-syndromic ASD, syndromic ASD is often associated with chromosomal abnormalities or monogenic alterations. Familial cases of ASD support the strong genetic component of ASD.

To collect clinical arguments supporting a genetic cause of autism spectrum disorder.

We present a clinical study of familial cases of ASD. The families were recruited as part of a collaborative project between the department of Medical Genetic and the department of Child Psychiatry in Hedi Chaker Hospital, Sfax, Tunisia. The clinical and paraclinical data were collected retrospectively.

Our study included 11 unrelated families from southern Tunisia, each with two ASD children, among them four couples of twins. Most families (80%) are consanguineous belonging to a middle socioeconomic class. None of the parents suffered from psychiatric disorder and a familial history of autism was reported in one family. Perinatal history, including advanced maternal or paternal age, fetal suffering and/or gestational problems, was found in 35% of cases.

The average age was 9.89 ± 3.787 (3 to 17 years) with a balanced sex-ratio.

ASD was syndromic in seven out of 11 families: facial dysmorphism in half of cases (6/11 families) and/or another comorbidity in 25% of cases (celiac disease, congenital heart disease or idiopathic hydrocephaly). ASD was associated with other(s) neurodevelopmental disorder(s) in all children. Most of cases (14/22) had delayed psychomotor development and all of them had intellectual disability with various degrees. Epilepsy was identified in three cases belonging to unrelated families. Other behavioral problem was identified in 65% of cases.

When the autism spectrum disorder is syndromic and/or associated with other(s) neurodevelopmental(s) disorder(s), this points more towards a genetic origin.

Our study highlights the interest of clinical investigations to determine genetic risk factors of ASD. The identification of a genetic cause in familial cases would contribute not only to better understand the pathological processes of ASD but also to provide an appropriate genetic counseling.

None Declared

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease usually associated with neonatal seizures that are sensitive to pyridoxine (vitamin B6). This disease can have a significant impact on family functioning, with significant psychological distress in parents. Post-traumatic stress disorder (PTSD), depression, and anxiety are the most common psychiatric outcomes in parents of children with PDE.

To investigate the prevalence of significant symptoms of depression, anxiety, and stress in parents of children with PDE.

The study consisted of a survey of parents accompanying their children diagnosed with PDE. The diagnosis was already confirmed by objectifying a homozygous or a compound heterozygous mutation in the ALDH7A1 gene in all siblings with heterozygous carrier parents. The Impact of Event Scale-Revised (IES-R) was used to assess parental post-traumatic stress, and the Hospital Anxiety and Depression Scale was used to screen for parental depression and anxiety.

Our study included eight unrelated families with one infant presenting a confirmed PDE disease. The average age of the children with epilepsy was 4.18 years (8 months to 12 years) with equal representation of both sexes.

Half of parents surveyed had depressive symptoms and about two thirds reported anxious symptomatology. These troubles are mainly related to the uncertain prognosis of the disease, even with vitamin B6 supplementation, and the high risk of recurrence in siblings, which led some parents to not have other children. A higher anxiety scores was reported in parents who claimed to have difficulties in providing the necessary vitamin supplements to their affected children on a regular basis. PTSD was diagnosed in three parents: most parents reported difficulties in dealing with stress, specifically in relation to the unpredictability of seizures and the unavailability of medical care for their child, which taxed their financial resources and made it difficult for them to perform their roles effectively.

Besides, being an autosomal recessive transmission disease, the notion of responsibility/guilt was not reported by either parent, and both parents are equally involved in the care of their child.

A significant proportion of children’s parents with pyridoxine-dependent epilepsy are suffering from depression, anxiety, and post-traumatic stress. A deeper understanding of the clinical expressions of these troubles could help practitioners to develop prevention and intervention strategies for these parents.

None Declared

COVID19 pandemic had a significant psychological impact on the population worldwide. However, health care workers have been the most exposed to psychological effects.

To determine the psychological impact of the covid19 pandemic on health care professionals (HCPs) who were working in the covid19 setting.

Descriptive cross-sectional study carried out in May 2020, having interested the HCPs of the Charles Nicolle hospital who were working in the COVID19 settings .The data collection was carried out with a pre-established questionnaire .The visual analog scale of B. Chini was used to assess the level of work stress. This assessment was undertaken at three points in time: during the work, during the confinement period and post confinement .

Seventy five nurses participated to the study. The average age was 39.7±9.6 years. The sex ratio was 0.74. The average professional seniority was 11.6±8.14 years. During the confinement, a feeling of anxiety and apprehension of danger to others were reported by 96% of the participants. In addition, sleep disorders and irritability were noticed in 65% and 92% of cases respectively. At the end of the confinement period, 77% of the cases reported neuropsychological complaints: feelings of anxiety (57%), mood disorders (49%), a sleep disorders (32%) and concentration disorders (20%). The average level of stress was evaluated at 7.54 during the work, 7.36 during confinement and 5.28 after confinement. Faced with this psychological suffering, 88% of the cases noted the absence of psychological support or assistance.

Psychological support and early screening in psychiatry and occupational medicine are necessary to prevent any deterioration in their mental health.

None Declared

Work on atypical schedules could lead to alertness and sleep disorders, which makes people with psychiatric pathologies more likely to exacerbate their illness.

To study the impact of psychoaffective diseases on the fitness for night or/and shiftwork

A descriptive cross-sectional study was conducted with patients with psychoaffective disorders working atypical hours who have consulted the Occupational Medicine Department of the Charles Nicolle Hospital for statements of medical fitness. The study period was six years from January 2016 to June 2022.

Among 224 employees who had shift/night work , 32.1% (n=76) had psycho-affective disorders. The average age was 43.32±8.64 years. The sex ratio (M/F) was 0.46. The average professional seniority was 17.35±9.17 years. The most represented sectors were: health (56%), the electronics industry (5%), finance (5%) and the plastics industry (5%). The most occupied jobs were: nurses (21%), blue collar workers (20%), senior techniciens (20%) and security guards (8%). Psychiatric pathologies were represented by anxiety disorders (80%), psychoses (8%), schizophrenia (8%) and bipolar disorders (4%). The consultants were on medication in 88% of cases. Antidepressants were prescribed in 75% of cases, followed by anxiolytics (54%), antipsychotics (22%) and thymoregulators (4%). Concerning the medical fitness for work of the patients, a definitive eviction from shift/night work was indicated in 56% of cases.

A medical assessment of the fitness to work on atypical schedules for workers with psychiatric disorders is required, in particular, during the employment medical examination

None Declared

Cornelia De Lange syndrome (CdLS) is a dominant and rare genetically heterogeneous syndrome. It is characterized by a large phenotypical spectrum going from a classical to a non-classical form affecting multiple organ systems including central nervous, locomotor, skin, gastrointestinal, immune and endocrine systems in association with specific dysmorphic features. Neuropsychiatric manifestations represent a hallmark of CdLS phenotype.

The aim of this study is to describe the neuropsychiatric features of Cornelia De Lange syndrome.

This is a descriptive and retrospective study compromising unrelated Tunisian patients diagnosed clinically and genetically with CdLS during the period between 2002-2021. Each patient underwent a comprehensive clinical evaluation. In this study, we focused on neuropsychiatric and behavioural phenotype specifying intellectual disability(ID), language delay (LD), autism spectrum disorder (ASD), hyperactivity, aggressivity, specific learning disorder(SLD), sleep problems, compulsive behaviours and social anxiety disorders during adolescence.

A total of nine patients were included in this study. ID was present in all the evaluated patients with different level of severity evolving from mild (8/9) to severe (1/9). LD in absent of hearing problems was detected in two patients. Hyperactivity was found in three patients. Aggressivity was discovered in one patient in a form of self-injurious behaviour in one patient and hetero-aggressivity in another. None of our patients was diagnosed with ASD. Sleep problems such as frequent night-time awakenings were observed in one patient. All patients at age of schooling presented different levels of SLD. None of our patients was diagnosed with anxiety or compulsive behaviours.

Our results support the implication of behavioural and psychiatric features in CdLS phenotype. All of symptoms described in the literature were present in our patients. Further evaluation of our patients during their life is important to reveal age-related features such as anxiety or compulsive behaviours. These features can be used to inform specific psychiatric assistance for family psychoeducation, psycho-social interventions, and cognitive-behavioural education treatment approaches in individuals with CdLS.

None Declared

Widespread outbreaks of infectious disease, such as COVID-19, are associated with psychological distress and symptoms of mental illness especially for patients with suggestive symptoms.

Predict the prevalence of perceived stress and study associated factors among patients with suspected COVID-19 infection.

A cross sectional study was conducted between April and May 2020. Patients consulting the sorting box at the Hedi Chaker Hospital of Sfax and declared suspect to be infected by COVID-19 were invited to participate in our study after given their cosent. Perceived Stress Scale-10 was used to evaluate prevalence of perceived stress.

In total, 149 participants participated. The mean age was 38.8±15.39 years. Medical or surgical history and psychiatric history were identified respectively in 30,2% and 12.1% of participants. Among all respondents, 74.5% took a nasopharyngeal swab to look for COVID-19 and only 6.4% had a positive test. Close contact with someone with a positive COVID-19 infection was found in 8.05%. Several participants (79,2%) expressed fear of transmitting the disease to their family members. The mean of the PSS-10 score was 11.97±9.83. Moderate to severe perceived stress was found in 44.3% of patients. Significantly higher scores were observed among participants with a positive pharyngeal swab for COVID-19 as well as those who perceived worry of transmetting the disease. No significant differences in perceived stress’ scores according to socio-demographic data.

Perceived stress was high among patients with suspected COVID-19 infection. Perceiving worry of transmetting the disease and having a positive pharyngeal swab for COVID-19 were the principal risk factors.

No significant relationships.

Quarantine for suspected patients of being infected by the COVID-19 can lead to negative consequences for mental health and the appearance of depressive symptoms.

To assess the prevalence of depression in quarantined patients, and to analyze the associated factors.

This was a descriptive and analytical survey, carried out from April 4 to May 30, 2020, with 149 patients consulting the COVID-19 sorting box at the Hedi Chaker CHU in Sfax. Suspected COVID-19 patients were contacted by phone during their quarantine and invited to participate in our study. The Patient Health Questionnaire (PHQ-9) scale was used to assess the severity of depression. Cutoffs of 5, 10, 15, and 20 represent minimal, mild, moderate, moderately severe, and severe levels of depression based on PHQ-9 scores. A cutoff score of 10 determines major depression.

The results showed a prevalence of major depression of 10.7%. Of all patients, 89.3% had minimal to mild depression; 10% had moderate to moderately severe depression and 0.7% had severe depression. The PHQ-9 score was statistically correlated with travel to a suspect area during the 14 days preceding the consultation (p = 0.008), contact with a subject confirmed COVID-19 (p = 0.01), previous follow-up in psychiatry (p = 0.047), the change of residence during quarantine (p = 0.045), the fear of transmitting the disease to relatives (p = 0.00) and the positive result of the nasopharyngeal swab (p = 0.00).

Psychological distress was felt in our patients. We recommend that necessary measures should be taken to combat depression.