Felipe Soares Oliveira Portela, Carlos Augusto Rossetti, Thulio Fernandes de Souza, Arthur Souza Magnani, Marcelo Fiorelli Alexandrino da Silva, Maria Fernanda Cassino Portugal, Marcelo Passos Teivelis, Nelson Wolosker, Cynthia de Almeida Mendes
Retrospective analysis of 1,203 cases of referral to a quaternary vascular surgery outpatient clinic within the Unified Health System, São Paulo, Brazil
Einstein (Sao Paulo, Brazil)
creatine transporter deficiency ctd rare xlinked genetic disorder characterized intellectual disability id evaluated clinical characteristics trajectory patients ctd impact disease caregivers identify relevant endpoints future therapeutic trials part french national research program patients ctd included based 1 pathogenic slc6a8 variant 2 id andor autism spectrum disorder families patients referred physician ordered genetic analysis reference centers id rare causes inherited metabolic diseases informed patients parentsguardians study gave written consent included control group agematched sexmatched patients fragile x syndrome also included physical examination neuropsychological assessments caregiver impact assessed data analyzed using r software thirtyone patients 27 male 4 female included 2531 aged 18 years younger patients 71 symptoms 24 months age mean age diagnosis 65 years epilepsy occurred 45 mean age onset 8 years earlyonset behavioral disorder occurred 82 developmental trajectory consistently delayed fine gross motor skills language communicationsociability half patients ctd axial hypotonia first year life patients able walk without help 731 ataxia 1431 could walk tandem gait abnormal fine motor skills 2731 language impairment 3031 1223 male patients 522 completed peabody picture vocabulary test approximately half 1431 slender build needed nursing care 2031 generally 14 hd adaptive assessment vineland confirmed male patients ctd moderatetosevere id caregivers 79 risk burnout shown caregiver burden inventory cbi 36 significantly higher patients fragile x syndrome high burden time dependence addition clinical endpoints assessment epilepsy developmental trajectory patient vineland scale ppvt5 cbi particular interest outcome measures future trials ansm registration number 2010a0032732