Table 4

Neurological features and neurodevelopmental outcome of CC2D2A- related Joubert syndrome

Identification noAge (years)MRI findingsVM/HCAtaxiaWalkingSpeechEducationSeizuresBehaviourOther neuro
UW36-38MTS, malformed hippocampiVMYesWheelchair, household ambulatorNDHigh school cert, Sp EdAggressive
UW41-39MTSVMYesWalking with aidNon-verbalPreschool, Sp EdAut behaviourStereotyped mvts
UW46-119MTSVMYesIndep age 3 yearsVerbalReads in KG, Sp EdInvoluntary mvts, tics
UW46-222MTSVMYesIndep age 6 yearsSignsCollege Sp Ed
UW47-319MTSYesIndep age 10 yearsSignsLifeskills programComplex partialAnxiety
UW48-37*MTS, perivent WM abnlVMNDNDNDND
UW49-324MTS, partial ACCHC, VP shuntYesWheelchair, walks a few stepsVerbalMainstreamed Sp Edyes (provoked, single post-txpt)Violent outbursts
UW50-312MTS, FMCYesIndep age 9 yearsPartially verbalPreschool Sp EdInvoluntary mvts, tics
UW50-68MTS, ACC, small ECVMYesNot walkingNon-verbalPreschool Sp EdInvoluntary mvts, tics
UW67-37MTS, PMG, TM het, MB hetVMNDWalkerNon-verbal, ACDND
UW75-318MTSNDYesIndep age 4 years (unsteady)VerbalMainstreamed Sp edHemifacial spasms
UW76-33MTSNDNDNot walking age 3 yearSignsNARecurrent facial palsy
UW79-326MTSNDYesIndep age 5 yearsVerbal and signsSp EdAggressiveInvoluntary mvts
UW79-424MTS, CMP, FMCVMYesIndep age 7 yearsVerbal and signsSp EdPrimary generalisedAut behaviour, violenceInvoluntary mvts
UW80-31MTSHC, VP shuntNDNDNDNDyes (type ND)ND
UW81-311MTSYesIndep age 2 yearsVerbalPrimary school Sp EdTemper outbursts
UW82-38MTS, Nod het, BS het, MB het, CMPVMYesWalkerNon-verbal, ACDPreschool Sp EdComplex partial
UW102-34MTS, MB hetHC, VP shuntNDNot walkingSignsNDCortical visual impairment
UW103-33MTS, PMG, Nod hetVMYesNot walking age 3 yearsNon-verbal, picture commNA
  • * Deceased.

  • ACC, agenesis of the corpus callosum; ACD, augmentative communication device; Aut behaviour, autistic behaviour; BS het, brain stem heterotopia; cert, certificate; CMP, cervicomedullary prominence; EC, encephalocele; FMC, foramen magnum cephalocele; Indep, independent; KG, kindergarten; MB het, midbrain heterotopia; MTS, molar tooth sign; mvts, movements; NA, not applicable; ND, not documented; Nod het, nodular heterotopias; perivent, periventricular; picture comm, picture communication system; PMG, polymicrogyria; Sp Ed, special education; TM het, transmantle heterotopia; txpt, transplant; VM/HC, ventriculomegaly/hydrocephalus; VP, ventriculoperitoneal; W, Walker; WM, white matter.