xml: <clinical_study>
    <!-- This xml conforms to an XML Schema at:
      https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
    <required_header>
      <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
      <link_text>Link to the current ClinicalTrials.gov record.</link_text>
      <url>https://clinicaltrials.gov/ct2/show/NCT06033768</url>
    </required_header>
    <id_info>
      <org_study_id>Ncs compilications</org_study_id>
      <nct_id>NCT06033768</nct_id>
    </id_info>
    <brief_title>Neurological and Psychological Assessment of Neurocutaneous Syndromes in Upper Egypt Children</brief_title>
    <official_title>Neurological and Psychological Assessment of Neurocutaneous Syndromes in Upper Egypt Children</official_title>
    <sponsors>
      <lead_sponsor>
        <agency>Assiut University</agency>
        <agency_class>Other</agency_class>
      </lead_sponsor>
    </sponsors>
    <source>Assiut University</source>
    <oversight_info>
      <is_fda_regulated_drug>No</is_fda_regulated_drug>
      <is_fda_regulated_device>No</is_fda_regulated_device>
    </oversight_info>
    <brief_summary>
      <textblock>
        Evaluation of neurological and psychological complications in children diagnosed as&#xD;
        neurocutaneous syndromes in upper Egypt&#xD;
      </textblock>
    </brief_summary>
    <detailed_description>
      <textblock>
        Neurocutaneous syndromes (NCS) are heterogeneous group of disorders characterized by&#xD;
        abnormalities of both the integument and central nervous system. Most of the disorders of NCS&#xD;
        are inherited as autosomal dominant conditions and originated from a defect in&#xD;
        differentiation of the primitive ectoderm.NCS include Neurofibromatosis1 (NF1), Tuberous&#xD;
        Sclerosis (TS), Sturge Weber Syndrome (SWS), von Hippel-Lindau disease (VHL),&#xD;
        Pascual-Castroviejo type II syndrome (PHACE syndrome), Ataxia telangiectasia (AT),Linear&#xD;
        Nevus Syndrome (LNS), hypo melanosis of Ito and Incontenintia Pigmenti(IP), Xeroderma&#xD;
        pigmentosa (XP). Among them the most common disorders areNF, TS complex and SWS. These&#xD;
        lifelong disorders generally present during infancy and early childhood..These disorders are&#xD;
        characterized clinically by neurological manifestations as convulsions, mental retardation&#xD;
        and learning disabilities.&#xD;
  &#xD;
        Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that is diagnosed&#xD;
        from birth to adulthood.TSC is characterized by growth of non-malignant hamartoma in various&#xD;
        organs throughout the body.&#xD;
  &#xD;
        The majority of individuals with Tuberous sclerosis have mutations in either the TSC1 orTSC2&#xD;
        genes.&#xD;
  &#xD;
        Most common manifestations of Tuberous sclerosis are multiple type of seizures and various&#xD;
        organ involvement.&#xD;
  &#xD;
        Epilepsy is very common in people living with Tuberous Sclerosis Complex (TSC), with around 8&#xD;
        in every 10 children with Tuberous Sclerosis also experiencing epilepsy.Epilepsy in Tuberous&#xD;
        Sclerosis often begins during the first year of life and,in most cases, in the first month.&#xD;
        At this time the most common types of seizures are partial motor seizures and infantile&#xD;
        spasms.&#xD;
  &#xD;
        Many of the multi-dimensional problems experienced by patients with Tuberous sclerosis&#xD;
        changeover time, substantially affecting quality of life. Thus, an overall understanding of&#xD;
        physical, cognitive, and mental health is necessary to ensure continuous and systematic&#xD;
        management of symptoms in this population.&#xD;
  &#xD;
        Among the psychiatric problems associated with Tuberous sclerosis, autism spectrum disorder&#xD;
        (ASD) is the most common, affecting up to 61 % of patients However, its severity is not&#xD;
        frequently reported, and the risk factors for autism spectrum disorder in the Tuberous&#xD;
        sclerosis population are still controversial.&#xD;
  &#xD;
        Numis et al. followed 103 patients with Tuberous sclerosis, and 40% had concurrent autism .&#xD;
  &#xD;
        The neurocognitive panel of the 2012 International Tuberous sclerosis Consensus Conference&#xD;
        recommended that individuals with Tuberous sclerosis should be screened for comorbid&#xD;
        conditions once per year.In 2015, DeVries et al. proposed the Tuberous&#xD;
        Sclerosis-AssociatedNeuropsychiatric Disorders (TAND) checklist. Neurofibromatosis 1 (NF1) is&#xD;
        an umbrella term for 3 genetically distinct disorders:NF1, NF2, and Schwannomatosis. They&#xD;
        have a common tendency toward development of tumors of the nerve sheath, but the specific&#xD;
        manifestations are distinct and the conditions result from variants indifferent genes. NF1 is&#xD;
        the commonest neurofibromatosis and the most likely to present in childhood. Café- au-lait&#xD;
        macules are the pathognomonic cutaneous manifestations of NF1 thatpresent at birth but often&#xD;
        gradually appear in the first few postnatal months .&#xD;
  &#xD;
        The most common complications of NF1 are cognitive and behavioral deficits,Upto 80% of&#xD;
        children with NF1 experience cognitive and behavioral difficulties involving different&#xD;
        domains. Parents often report poor performance in reading,written work, spelling,&#xD;
        organizational skills, and mathematics. In addition,approximately 38% of affected children&#xD;
        have attention-deficit/hyperactivity disorder (ADHD),and some studies have reported that 29%&#xD;
        of children with NF1have autism spectrum disorder (ASD ) Ataxia-telangiectasia is a&#xD;
        multisystem disorder characterized by progressive deterioration of neurologic function,&#xD;
        ocular and cutaneous telangiectasia, cerebellar ataxia and variable immunodeficiency .&#xD;
  &#xD;
        Ataxia telangiectasia is an autosomal recessive neurodegenerative disorder that is&#xD;
        characterized by progressive cerebellar atrophy and ataxia,radio sensitivity, immune&#xD;
        deficiency and tendency to develop lymphoreticular malignancies. The disorder is relatively&#xD;
        rare, with an incidence of 1:40000 to 1:100 000. It is the secondmost frequent cause of&#xD;
        recessive ataxia in childhood after Freidreich ataxia, but the most frequent in children with&#xD;
        onset of ataxia within the first years of life .&#xD;
  &#xD;
        Sturge-weber syndrome is defined as the occurrence of port-wine stain on the face associated&#xD;
        with leptomeningeal angiomatosis that can lead to seizures, stroke and glaucoma. The&#xD;
        port-wine stain can occur without leptomeningeal involvement and leptomeningeal involvement&#xD;
        can occur without the port-wine stain .&#xD;
  &#xD;
        The main neurological complication of Sturge Weber Syndrome are seizures (75% to 90%), slowly&#xD;
        progressive hemi paresis (25% to 60%), migraine-like vascular headaches (30% to 45%), delayed&#xD;
        neuropsychological development (50%to 60%), episodes similar to cerebro-vascular events, with&#xD;
        acute transient hemiplegia, visual field defects, and behavioral problems.&#xD;
  &#xD;
        Xeroderma pigmentosum is a rare autosomal recessive genodermatosis due to mutations in&#xD;
        nucleotide excision repair. The condition characteristicallydemonstrates severe&#xD;
        photosensitivity, skin pigmentary changes, malignant tumordevelopment, and occasionally&#xD;
        progressive neurologic degeneration. The disease affects about 1 per million in the United&#xD;
        States, and the incidence in Japan ismuch higher at 45 per million.&#xD;
  &#xD;
        Von Hippel-Lindau disease is named after Eugen Von Hippel, a German ophthalmologist and Arvid&#xD;
        Lindau, a Swedish pathologist. In 1904 Von Hippel first described angiomas in the eye, while&#xD;
        Lindau described angiomas of the cerebellum and spine in 1927. As a result, the term&#xD;
        &quot;VHLDisease&quot; was first used in 1936 and gained acceptance and became established in the&#xD;
        medical literature from the 1970. Von Hippel-Lindau disease is characterized by&#xD;
        hemangioblastomas of the brain, spinal cord, andretina. Renal cysts and clear cell renal cell&#xD;
        carcinoma,Pheochromocytoma, pancreatic cysts, and neuroendocrine tumors,Endolymphatic sac&#xD;
        tumors and epididymal and broad ligament cysts.&#xD;
  &#xD;
        PHACE syndrome is a neurocutaneous condition in which extensive or segmental infantile&#xD;
        hemangioma (IH), usually on the face, scalp, or cervical region,can be associated with&#xD;
        posterior fossa malformations, arterial abnormalities [primarily inthe CNS], coarctation of&#xD;
        the aorta, cardiac defects, and ocular abnormalities.&#xD;
  &#xD;
        Incontentia Pigmenti is a rare X-linked dominant disorder that affects the skin,teeth, eyes,&#xD;
        central nervous system, and skeletal system . As an X-linked trait, it is usually lethal to&#xD;
        males, hence the preponderance of females with this condition. In fact, females represent&#xD;
        about 98% of babies born with Incontentia Pigmenti. Incontentia Pigmenti is a multisystem&#xD;
        disorder with prominent features of mosaicism or cutaneous patterns that connote an&#xD;
        individual comprised of two or more different cell lines.&#xD;
  &#xD;
        Hypomelanosis of Ito is a pigmentary mosaicism characterized by a clone of skin cells with&#xD;
        decreased ability to produce pigment. The clinical patterns characterized by hypo pigmented&#xD;
        streaks and whorls running along the lines of Blaschko, characteristically involving more&#xD;
        than two body segments.&#xD;
  &#xD;
        Cerebral malformations may occur, and visual impairment may be cortical in nature with&#xD;
        Hypomelanosis of Ito.&#xD;
  &#xD;
        The Diagnostic and Statistical Manual of Mental Disorders (DSM) is the handbook widely used&#xD;
        by clinicians and psychiatrists in the United States to diagnose psychiatric illnesses.&#xD;
        Published by the American Psychiatric Association (APA), the DSM covers all categories of&#xD;
        mental health disorders for both adults and children. It contains descriptions, symptoms, and&#xD;
        other criteria necessary for diagnosing mental health disorders. It also contains statistics&#xD;
        concerning who is most affected by different types of illnesses, the typical age of onset,&#xD;
        the development and course of the disorders, risks and prognostic factors, and other related&#xD;
        diagnostic issues.&#xD;
  &#xD;
        One of the most trouble some aspects in the exploration of the affective and&#xD;
        behavioraldysregulation is the difficulty of reliable and cost-effective diagnostic measures.&#xD;
        The Child Behavior Checklist (CBCL), one of the most frequently used instruments for&#xD;
        assessment of developmental psychopathology.&#xD;
  &#xD;
        In TSC the term TAND (Tuberous Sclerosis Associated Neuropsychiatric Disorders) is used to&#xD;
        capture the multidimensional biopsychosocial difficulties of the disease.&#xD;
  &#xD;
        A specific TAND Checklist has been developed to assess Behavioral, Psychiatric, Intellectual,&#xD;
        Academic, Neuropsychological and Psychosocial areas .&#xD;
  &#xD;
        To date, no psychosocial disease-specific screening tool has been developed toassess other&#xD;
        nurocutaneous syndromes patients .&#xD;
      </textblock>
    </detailed_description>
    <overall_status>Not yet recruiting</overall_status>
    <start_date type="Anticipated">October 1, 2023</start_date>
    <completion_date type="Anticipated">December 1, 2025</completion_date>
    <primary_completion_date type="Anticipated">October 1, 2025</primary_completion_date>
    <study_type>Observational</study_type>
    <has_expanded_access>No</has_expanded_access>
    <study_design_info>
      <observational_model>Case-Only</observational_model>
      <time_perspective>Cross-Sectional</time_perspective>
    </study_design_info>
    <primary_outcome>
      <measure>epilepsy</measure>
      <time_frame>baseline</time_frame>
      <description>prevalence of epilepsy in children with neurocutaneous syndromes</description>
    </primary_outcome>
    <primary_outcome>
      <measure>autism spectrum</measure>
      <time_frame>baseline</time_frame>
      <description>prevalence of autism spectrum in children with neurocutaneous syndromes</description>
    </primary_outcome>
    <primary_outcome>
      <measure>attention deficit hyperactivity syndrome</measure>
      <time_frame>baseline</time_frame>
      <description>prevalence of attention deficit hyperactivity syndrome in children with neurocutaneous syndromes</description>
    </primary_outcome>
    <primary_outcome>
      <measure>depression</measure>
      <time_frame>bsaeline</time_frame>
      <description>prevalence of depression in children with neurocutaneous syndromes</description>
    </primary_outcome>
    <enrollment type="Anticipated">200</enrollment>
    <condition>Neurocutaneous Syndromes</condition>
    <eligibility>
      <study_pop>
        <textblock>
          his study will be carried out in outpatient clinic and inpatient department in Assiut&#xD;
          University Children's Hospital .&#xD;
        </textblock>
      </study_pop>
      <sampling_method>Non-Probability Sample</sampling_method>
      <criteria>
        <textblock>
          Inclusion Criteria:&#xD;
  &#xD;
          - All children with sign and symptoms of neurocutneous syndromes.&#xD;
  &#xD;
          Exclusion Criteria:&#xD;
  &#xD;
            -  Children with pigmentary and neurological disorders other than neurocutneous&#xD;
               syndromes.&#xD;
        </textblock>
      </criteria>
      <gender>All</gender>
      <minimum_age>1 Month</minimum_age>
      <maximum_age>18 Years</maximum_age>
      <healthy_volunteers>No</healthy_volunteers>
    </eligibility>
    <verification_date>September 2023</verification_date>
    <study_first_submitted>September 3, 2023</study_first_submitted>
    <study_first_submitted_qc>September 10, 2023</study_first_submitted_qc>
    <study_first_posted type="Actual">September 13, 2023</study_first_posted>
    <last_update_submitted>September 10, 2023</last_update_submitted>
    <last_update_submitted_qc>September 10, 2023</last_update_submitted_qc>
    <last_update_posted type="Actual">September 13, 2023</last_update_posted>
    <responsible_party>
      <responsible_party_type>Principal Investigator</responsible_party_type>
      <investigator_affiliation>Assiut University</investigator_affiliation>
      <investigator_full_name>Mohamad</investigator_full_name>
      <investigator_title>doctor</investigator_title>
    </responsible_party>
    <condition_browse>
      <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
      <mesh_term>Neurocutaneous Syndromes</mesh_term>
      <mesh_term>Syndrome</mesh_term>
    </condition_browse>
    <!-- Results have not yet been posted for this study                                          -->
  </clinical_study>
  
  
text: download date: ClinicalTrials.gov processed this data on September 20, 2023
  link text: Link to the current ClinicalTrials.gov record.
  url: https://clinicaltrials.gov/ct2/show/NCT06033768
  org study id: Ncs compilications
  nct id: NCT06033768
  lead sponsor: 
  is fda regulated drug: No
  is fda regulated device: No
  Evaluation of neurological and psychological complications in children diagnosed as
        neurocutaneous syndromes in upper Egypt
  Neurocutaneous syndromes (NCS) are heterogeneous group of disorders characterized by
        abnormalities of both the integument and central nervous system. Most of the disorders of NCS
        are inherited as autosomal dominant conditions and originated from a defect in
        differentiation of the primitive ectoderm.NCS include Neurofibromatosis1 (NF1), Tuberous
        Sclerosis (TS), Sturge Weber Syndrome (SWS), von Hippel-Lindau disease (VHL),
        Pascual-Castroviejo type II syndrome (PHACE syndrome), Ataxia telangiectasia (AT),Linear
        Nevus Syndrome (LNS), hypo melanosis of Ito and Incontenintia Pigmenti(IP), Xeroderma
        pigmentosa (XP). Among them the most common disorders areNF, TS complex and SWS. These
        lifelong disorders generally present during infancy and early childhood..These disorders are
        characterized clinically by neurological manifestations as convulsions, mental retardation
        and learning disabilities.
  
        Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that is diagnosed
        from birth to adulthood.TSC is characterized by growth of non-malignant hamartoma in various
        organs throughout the body.
  
        The majority of individuals with Tuberous sclerosis have mutations in either the TSC1 orTSC2
        genes.
  
        Most common manifestations of Tuberous sclerosis are multiple type of seizures and various
        organ involvement.
  
        Epilepsy is very common in people living with Tuberous Sclerosis Complex (TSC), with around 8
        in every 10 children with Tuberous Sclerosis also experiencing epilepsy.Epilepsy in Tuberous
        Sclerosis often begins during the first year of life and,in most cases, in the first month.
        At this time the most common types of seizures are partial motor seizures and infantile
        spasms.
  
        Many of the multi-dimensional problems experienced by patients with Tuberous sclerosis
        changeover time, substantially affecting quality of life. Thus, an overall understanding of
        physical, cognitive, and mental health is necessary to ensure continuous and systematic
        management of symptoms in this population.
  
        Among the psychiatric problems associated with Tuberous sclerosis, autism spectrum disorder
        (ASD) is the most common, affecting up to 61 % of patients However, its severity is not
        frequently reported, and the risk factors for autism spectrum disorder in the Tuberous
        sclerosis population are still controversial.
  
        Numis et al. followed 103 patients with Tuberous sclerosis, and 40% had concurrent autism .
  
        The neurocognitive panel of the 2012 International Tuberous sclerosis Consensus Conference
        recommended that individuals with Tuberous sclerosis should be screened for comorbid
        conditions once per year.In 2015, DeVries et al. proposed the Tuberous
        Sclerosis-AssociatedNeuropsychiatric Disorders (TAND) checklist. Neurofibromatosis 1 (NF1) is
        an umbrella term for 3 genetically distinct disorders:NF1, NF2, and Schwannomatosis. They
        have a common tendency toward development of tumors of the nerve sheath, but the specific
        manifestations are distinct and the conditions result from variants indifferent genes. NF1 is
        the commonest neurofibromatosis and the most likely to present in childhood. Café- au-lait
        macules are the pathognomonic cutaneous manifestations of NF1 thatpresent at birth but often
        gradually appear in the first few postnatal months .
  
        The most common complications of NF1 are cognitive and behavioral deficits,Upto 80% of
        children with NF1 experience cognitive and behavioral difficulties involving different
        domains. Parents often report poor performance in reading,written work, spelling,
        organizational skills, and mathematics. In addition,approximately 38% of affected children
        have attention-deficit/hyperactivity disorder (ADHD),and some studies have reported that 29%
        of children with NF1have autism spectrum disorder (ASD ) Ataxia-telangiectasia is a
        multisystem disorder characterized by progressive deterioration of neurologic function,
        ocular and cutaneous telangiectasia, cerebellar ataxia and variable immunodeficiency .
  
        Ataxia telangiectasia is an autosomal recessive neurodegenerative disorder that is
        characterized by progressive cerebellar atrophy and ataxia,radio sensitivity, immune
        deficiency and tendency to develop lymphoreticular malignancies. The disorder is relatively
        rare, with an incidence of 1:40000 to 1:100 000. It is the secondmost frequent cause of
        recessive ataxia in childhood after Freidreich ataxia, but the most frequent in children with
        onset of ataxia within the first years of life .
  
        Sturge-weber syndrome is defined as the occurrence of port-wine stain on the face associated
        with leptomeningeal angiomatosis that can lead to seizures, stroke and glaucoma. The
        port-wine stain can occur without leptomeningeal involvement and leptomeningeal involvement
        can occur without the port-wine stain .
  
        The main neurological complication of Sturge Weber Syndrome are seizures (75% to 90%), slowly
        progressive hemi paresis (25% to 60%), migraine-like vascular headaches (30% to 45%), delayed
        neuropsychological development (50%to 60%), episodes similar to cerebro-vascular events, with
        acute transient hemiplegia, visual field defects, and behavioral problems.
  
        Xeroderma pigmentosum is a rare autosomal recessive genodermatosis due to mutations in
        nucleotide excision repair. The condition characteristicallydemonstrates severe
        photosensitivity, skin pigmentary changes, malignant tumordevelopment, and occasionally
        progressive neurologic degeneration. The disease affects about 1 per million in the United
        States, and the incidence in Japan ismuch higher at 45 per million.
  
        Von Hippel-Lindau disease is named after Eugen Von Hippel, a German ophthalmologist and Arvid
        Lindau, a Swedish pathologist. In 1904 Von Hippel first described angiomas in the eye, while
        Lindau described angiomas of the cerebellum and spine in 1927. As a result, the term
        "VHLDisease" was first used in 1936 and gained acceptance and became established in the
        medical literature from the 1970. Von Hippel-Lindau disease is characterized by
        hemangioblastomas of the brain, spinal cord, andretina. Renal cysts and clear cell renal cell
        carcinoma,Pheochromocytoma, pancreatic cysts, and neuroendocrine tumors,Endolymphatic sac
        tumors and epididymal and broad ligament cysts.
  
        PHACE syndrome is a neurocutaneous condition in which extensive or segmental infantile
        hemangioma (IH), usually on the face, scalp, or cervical region,can be associated with
        posterior fossa malformations, arterial abnormalities [primarily inthe CNS], coarctation of
        the aorta, cardiac defects, and ocular abnormalities.
  
        Incontentia Pigmenti is a rare X-linked dominant disorder that affects the skin,teeth, eyes,
        central nervous system, and skeletal system . As an X-linked trait, it is usually lethal to
        males, hence the preponderance of females with this condition. In fact, females represent
        about 98% of babies born with Incontentia Pigmenti. Incontentia Pigmenti is a multisystem
        disorder with prominent features of mosaicism or cutaneous patterns that connote an
        individual comprised of two or more different cell lines.
  
        Hypomelanosis of Ito is a pigmentary mosaicism characterized by a clone of skin cells with
        decreased ability to produce pigment. The clinical patterns characterized by hypo pigmented
        streaks and whorls running along the lines of Blaschko, characteristically involving more
        than two body segments.
  
        Cerebral malformations may occur, and visual impairment may be cortical in nature with
        Hypomelanosis of Ito.
  
        The Diagnostic and Statistical Manual of Mental Disorders (DSM) is the handbook widely used
        by clinicians and psychiatrists in the United States to diagnose psychiatric illnesses.
        Published by the American Psychiatric Association (APA), the DSM covers all categories of
        mental health disorders for both adults and children. It contains descriptions, symptoms, and
        other criteria necessary for diagnosing mental health disorders. It also contains statistics
        concerning who is most affected by different types of illnesses, the typical age of onset,
        the development and course of the disorders, risks and prognostic factors, and other related
        diagnostic issues.
  
        One of the most trouble some aspects in the exploration of the affective and
        behavioraldysregulation is the difficulty of reliable and cost-effective diagnostic measures.
        The Child Behavior Checklist (CBCL), one of the most frequently used instruments for
        assessment of developmental psychopathology.
  
        In TSC the term TAND (Tuberous Sclerosis Associated Neuropsychiatric Disorders) is used to
        capture the multidimensional biopsychosocial difficulties of the disease.
  
        A specific TAND Checklist has been developed to assess Behavioral, Psychiatric, Intellectual,
        Academic, Neuropsychological and Psychosocial areas .
  
        To date, no psychosocial disease-specific screening tool has been developed toassess other
        nurocutaneous syndromes patients .
  observational model: Case-Only
  time perspective: Cross-Sectional
  measure: epilepsy
  time frame: baseline
  description: prevalence of epilepsy in children with neurocutaneous syndromes
  measure: autism spectrum
  time frame: baseline
  description: prevalence of autism spectrum in children with neurocutaneous syndromes
  measure: attention deficit hyperactivity syndrome
  time frame: baseline
  description: prevalence of attention deficit hyperactivity syndrome in children with neurocutaneous syndromes
  measure: depression
  time frame: bsaeline
  description: prevalence of depression in children with neurocutaneous syndromes
  study pop: 
  sampling method: Non-Probability Sample
  criteria: 
  gender: All
  minimum age: 1 Month
  maximum age: 18 Years
  healthy volunteers: No
  responsible party type: Principal Investigator
  investigator affiliation: Assiut University
  investigator full name: Mohamad
  investigator title: doctor
  mesh term: Neurocutaneous Syndromes
  mesh term: Syndrome