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

Nowadays, the smartphone use is increasing, similar is the trend among medical students and professionals.

The problematic use of mobile phone has become a major public health concern as it may lead to its addiction and other disorders such as sleep disorders, depression and decreased life satisfaction.

This study aims to determine the association between mobile phone usage, Insomnia and depressive symptoms among medical students and medical professionals.

We conducted a descriptive and analytical study among 40 medical students and doctors. They were asked to fill out an anonymous online survey.

Problematic Use of Mobile Phones (PUMP) scale was used to assess mobile phone usage. Insomnia Severity Index (ISI) was used to screen for insomnia and the Patient Health Questionnaire-9 (PHQ-9) to screen for depression.

The mean age of participants was 27,8 years, with a sex ratio of 1/3.

The mean of the duration of mobile phone use was 3.4 hours per day.

We found that 77% of participants spend most of their time on social media (Facebook, Instagram, Tik Tok) when using their mobile phones.

In our study, participants with higher problematic use of mobile phone (PUMP) score were significantly more likely to present symptoms of insomnia (p=0.031) and depression (p=0.023) according to ISI and PHQ-9 scales.

Furthermore, a significant association was found between the duration of mobile phone use, Insomnia and depression. In fact, the Odds Ratio (OR) of Insomnia was 1.66 in participants who used mobile phone more than 2 hours per day compared to those who used mobile phone < 2 hours per day.

Similarly, the OR of depressive symptoms was significantly increased with prolonged mobile phone use (>= 2 hours per day) compared to those who used it <2 hours per day (OR=3).

Mobile phone problematic use is negatively related to sleep outcomes and depression symptoms. It is increasingly recognized as an important modifiable risk factor for mental health problems.

Prevention strategies including information, advice, sport and cultural activities are an essential need for all medical students and professionals to help them set limits for mobile phone use.

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

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

Tamoxifen is an antioestrogen agent used in breast cancer treatment. According to some guidelines, this molecular was also proposed for the treatment of acute mania. In fact, Tamoxifen inhibits the intracellular action of the protein kinase C (PKC), which is the direct target in the treatment of mania episodes. Lithium and valproate have also the same action.

We aimed to show the case of an acute mania under an inhibitor PKC treatment and insisted that other studies are recommended.

Case report description and research on medline, pubmed with the keywords: Tamoxifen, Bipolar disorder, protein kinase C,mania.

We reported a case of a 53-year-old woman with past history of unipolar depression. In 2018 when she was diagnosed with breast cancer. She received antidepressant drugs but she interrupted the treatment after a few months. She was treated for her breast cancer with mastectomy, radiotherapy, and 20 mg per day of Tamoxifen prescribed since Mars 2018. She had been admitted in June 2019 in our department for acute mania. The patient received Tamoxifen as it was prescribed. She was not taking any concomitant medications. No history of drug abuse was reported. Medical examination, laboratory, and radiological investigations did not indicate any medical pathology.

In our case, Tamoxifen had not ovoid the acute mania in spite of its Known anti-manic properties as reported in the literature. Possible neurobiological effect of tamoxifen on the nervous system should be studied to evaluate the safety of this treatment mainly in patients with bipolar disorder.