Genetic Etiology in Patients With Cerebral Palsy
Condition: Cerebral Palsy; Genetic Disease; Developmental Delay; Metabolism, Inborn Errors
MeSH terms: Paralysis; Cerebral Palsy; Genetic Diseases, Inborn; Metabolism, Inborn Errors
Study type: Observational [Patient Registry]

Summary: 
      Cerebral palsy (CP) is a permanent disorder of movement or posture due to non-progressive
      impairments of the developing brain. Current estimates indicate that as many as 30% of CP
      cases may be genetic in nature. In our study, the investigators will re-examine the data of
      children with CP, who are registered in the Slovenian National Registry of Cerebral Palsy.
      All children will be invited to the University Children's Hospital, University Medical Centre
      Ljubljana, where they will be re-examined by a neurologist. Blood for genetic testing will be
      taken. In the case of confirmed genetic ethiology of CP, the search for specific therapy will
      be possible.
    

Detailed description: 
      Cerebral palsy (CP) is a permanent disorder of movement or posture due to non-progressive
      impairments of the developing brain. In children, CP is the most common cause of motor
      impairment, which is often accompanied by other disorders such as epilepsy, mental
      retardation, speech and language disorders, eating disorders, visual and hearing disorders,
      and behavioral disorders. Approximately 1 child in every 500 live births is diagnosed with
      cerebral palsy.

      The causes of CP are usually related to inadequate blood flow and oxygen supply to the baby's
      central nervous system during pregnancy or birth, complications of premature birth, and other
      complications in the neonatal period such as respiratory distress, infections, or jaundice.
      It is estimated that in up to one third of children with CP the cause is unexplained. The
      cause of CP in these children may also be rare genetic diseases. For some of these diseases a
      targeted treatment is available.

      In Slovenia, all children with CP, born since 1996, are included in the Slovenian National
      Registry of Cerebral Palsy (SRCP), which is part of the European registry - Surveillance of
      Cerebral Palsy in Europe (SCPE). Children are entered into the register at University
      Children's Hospital, University Medical Centre Ljubljana at the age of 5, after prior
      parental consent, otherwise anonymously.

      In our study, the investigators will re-examine the data of children with CP, who are
      registered in the SRCP. All children will be invited to the University Children's Hospital,
      University Medical Centre Ljubljana, where they will be re-examined by a neurologist. With
      the consent of the patient or his/her parent/guardian, blood for genetic test will be taken.
      Utilising next gen sequencing (NGS), a gene panel of more than 100 genes associated with the
      CP spectrum disorders will be performed. In the case of confirmed genetic ethiology of CP,
      the search for specific therapy will be possible.
    

Intervention name(s): NGS
Intervention type(s): Diagnostic Test
Intervention description(s): A genetic panel of more than 100 genes, associated with CP spectrum disorders, will be assessed using NGS
Other intervention name(s): Next gen sequencing
Observational model: Cohort
Time perspective: Cross-Sectional
Sampling method: Non-Probability Sample
Study population: 
        The study will enroll and collect data from children with cerebral palsy of any grade (I-V)
        who are included in the Slovenian National Register of Cerebral Palsy (SRCP) and whose
        parents/caregivers were informed about the aims of the study and have signed the Informed
        consent form.
      
Biospecimen description: 
      DNA will be extracted from whole blood
    
Keywords: Cerebral palsy; Genetic disease; Neurodevelopmental disorder; Inborn errors of metabolism; Spasticity; Dystonia; Ataxia; Next generation sequencing; Aromatic l-amino acid decarboxylase deficiency