Cooperation between Misr radiology Center, Misrscan and CSENS

In Switzerland, Canada and globally, the CSENS shall have a primordial impact on clinical populations with implications for screening and early identification of infants and toddlers with neurodevelopmental disorders. Monogenic disorders may be of particular relevance to Egypt due to the high rate of consanguinity. However, polygenic disorders are of particular
relevance to Switzerland, Canada and worldwide. Monogenic genetics and cortical brain abnormalities can produce a range of neuropsychiatric features, which are shared by polygenic disorders.

The CSENS will:

(i) Create a complete database, which will be shared with researchers and the clinical community worldwide

(ii) Cement a multidisciplinary international collaboration around the pursuit of the determinants of the complexity of neurodevelopmental disorders

(iii) Establish a neurobiological foundation (endophenotyping) for the proteomics efforts that will follow (molecular genetics analysis)

(iv) Disseminate knowledge derived from our research nationally and internationally to scientists, practitioners, the media and the public. The information obtained from the CSENS will provide essential knowledge for scientists and clinicians for years to come.

We anticipate that the value of the platforms we are creating will attract the interest and active participation of clinicians and scientists from many disciplines and different universities in Egypt, Switzerland and Canada. By making this unique comprehensive high-quality dataset and associated biological samples freely available following established criteria, we anticipate this resource to be used by innumerable investigators throughout the world. Looking into the future, it is obvious that the CSENS multidisciplinary integrated efforts hold great promise to assemble the puzzle of neurodevelopmental disorders.

Making CSENS of neurodevelopmental disorders

Increasingly clinicians are asked to take a more active role in the management of children with neurodevelopmental disorders. However, management of these children extends beyond the traditional boundaries of pharmacotherapy, to the understanding of the gene-brain-behaviour triad. Such an understanding is important for effective practice when working with people with neurodevelopmental disabilities. In addition, it may aid in setting treatment goals, suggesting further cutting-edge information about likely developmental trajectory, additional comorbidities to anticipate, and future prognosis. However, despite intense genetic research in neurodevelopmental disorders, we may have reached an impasse using our
current methodologies. Here we introduce an analysis of the Canadian Swiss Egyptian Neurodevelopmental Study (CSENS) view, which is proposing the use of 3 innovative international joint effort approaches to de-puzzle the genetics of neurodevelopmental disorders: (1) homozygosity mapping; (2) behavioral phenotypes; (3) brain morphological phenotypes. In the following sections we will summarize the CSENS' novel aspects, existing limitations that we are trying to overcome, and some of the questions we hope to address.

Potential benefits of the CSENS to Egypt, Switzerland, Canada and worldwide

Proper genetic and educational counseling will be offered for families proved to have cases with monogenic disorders. Indeed, the relatively high prevalence of neurodevelopmental disorders in Egypt may be attributed to the decreased awareness of early detection and prediction of genetic disorders together with the increased percentage of consanguineous marriages. Hence the CSENS will stress upon the significance of early developmental screening, guided by clinically-based checklists, to determine whether a child who is experiencing any developmental or behavioral problems has a neurodevelopmental disorder. Such an early identification could help prevent parental frustration, stress, and self-doubt in the process of trying to find out a diagnosis. Consequently, this would help parents to early understand the cause for the child's problems and behaviors, which in turn will reduce costs to families and the health care system for repeated visits. Concerned families should be offered valuable information about resources and services, thus allowing immediate access to programs of early targeted intervention services and therapies. Moreover, the CSENS will have a primordial role in the public awareness of neurodevelopmental disorders in Egypt through the organization of public conferences. Parents who are more familiar with the manifestations of neurodevelopmental disorders might recognize it more readily in other family members, friends and neighbors, than informants unfamiliar with the disorder. Having a child with ASD might encourage a
parent to look for other relatives with similar characteristics in the family tree more aggressively than parents of children with other disabilities. Familiarity with the disorder is likely to increase one's sensitivity to similar traits in relatives and so result in more frequent reports than those from informants who are less familiar with the disorder.

In addition to genetic counseling, the CSENS is proposing to optimize educational and vocational outcomes in children/adolescents with neurodevelopmental disorders and their families. An integrated approach is needed to foster early self-regulatory capacities, which are the foundations for learning in later development. During early childhood and adolescence, interventions targeted to promote cognitive, language, motor, or sensory development can be critical, depending on the nature of the child's deficits. Early individualized intervention programs can be essential for supporting the child's development and can be very effective. Specifically social development and integration into the peer group is central for children/adolescents. In addition to direct therapies to foster development of specific skills and abilities, parent education and support are important. Childhood and adolescence are critical periods of robust brain development when emerging neural networks are highly vulnerable to the effects of genetic and environmental challenges. Most importantly, parents may struggle with discipline and imposing structure issues, hence counseling would be essentially important in providing guidance.

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