This study describes the cognitive and behavioral characteristics of five children with Robin Sequence associated with Stickler Syndrome. All showed preserved intelligence, with most scoring within the average range for working memory, verbal inhibition, visuospatial planning, and auditory attention. Visual attention difficulties were noted. Two had academic deficits. Four children showed symptoms of Attention-Deficit/Hyperactivity Disorder (ADHD), and one was diagnosed with ADHD and Specific Learning Disorder, also presenting signs of Obstructive Sleep Apnea. Findings highlight the need for systematic, multidisciplinary follow-up, emphasizing sleep-related respiratory evaluation as a differential diagnosis for inattention, hyperactivity, and academic difficulties.
By the Working Group on Writing a European Guideline on Robin Sequence. European guideline robin sequence an initiative from the European reference network for rare craniofacial anomalies and ear, nose and throat disorders (ERN-CRANIO). J Craniofac Surg. 2024;35(1):279–361. doi:10.1097/SCS.0000000000009701
2.
EvansAKRahbarRRogersGFMullikenJBVolkMS. Robin sequence: A retrospective review of 115 patients. Int J Pediatr Otorrinolaringol. 2006;70(6):973–980. doi:10.1016/j.ijporl.2005.10.016
3.
PrintzlauAAndersenM. Pierre Robin sequence in Denmark: A retrospective population-based epidemiological study. Cleft Palate Craniofac J. 2004;41(1):47–52. doi:10.1597/02-055
4.
WrightMCortina-BorjaMKnowlesRUrquhartDS. Global birth prevalence of Robin sequence in live-born infants: A systematic review and meta-analysis. Eur Respir Rev. 2023;32(170):230133. doi:10.1183/16000617.0133-2023
5.
BootheMMorrisRRobinN. Stickler Syndrome: A review of clinical manifestations and the genetics evaluation. JPM. 2020;10(3):105. doi:10.3390/jpm10030105
6.
SneadMPYatesJRW. Clinical and molecular genetics of Stickler Syndrome. J Med Genet. 1999;36(5):353–359. doi:10.1136/jmg.36.5.353
7.
SticklerGBBelauPGFarrellFJJonesJDPughDGSteinbergAGWardLE. Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc. 1965;40(1):433–455.
8.
SticklerGBHughesWHouchinP. Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler Syndrome): A survey. Genet Med. 2001;3(3):192–196.
9.
HaasJYuenKFarrokhyarFAminnejadMWilliamsCChoiM. Non-operative interventions for Pierre-Robin sequence: A systematic review and meta-analysis. J Craniomaxillofac Surg. 2024;52(12):1422–1427. doi:10.1016/j.jcms.2024.08.008
10.
BanharaFLTrindadeIEKTrindade-SuedamIKFernandesMDBLTrindadeSHK. Respiratory sleep disorders, nasal obstruction and enuresis in children with non-syndromic Pierre Robin sequence. Braz J Otorrinolaringol. 2022;88(S1):S133–S141. doi:10.1016/j.bjorl.2021.05.002.
11.
BanharaFLTrindade-SuedammIKTrindadeIEKSenaLMFTrindadeSHK. Robin sequence and isolated cleft palate are associated with a high prevalence of obstructive sleep apnea in school-aged children. Cleft Palate Craniofac J. 2025;1:1–10. doi:10.1177/10556656251316409.
12.
SemensatoMMTrindadeSHKMarzano-RodriguesMNScomparinLTrindade-SuedamI. Screening for obstructive sleep apnea and associated risk factors in adolescents and adults with isolated robin sequence. Cleft Palate Craniofac J. 2024;61(1):79–86. doi:10.1177/10556656221119078
13.
WiechersCUhligSPoetsA, WeiseC, NarosA, KrimmelM, KoosB, PoetsC, QuanteM.Sleep and neurocognitive outcome in primary school children with Robin sequence. SLEEP. 2023;46(5):zsac317. doi:10.1093/sleep/zsac317
14.
MenziesBTengABurnsMLahS. Neurocognitive outcomes of children with sleep disordered breathing: A systematic review with meta-analysis. Sleep Med Rev. 2022;63(1):101629. doi:10.1016/j.smrv.2022.101629.
15.
HaiYKouWGuZ, ZhangC, ZouQ, WangF, YaoH, WeiP.Obstructive sleep apnea affects the psychological and behavioural development of children–a case–control study. J Sleep Res. 2024;33(1):e13924. doi:10.1111/jsr.13924
16.
BourkeRAndersonVYangJSC, JackmanA, KilledarA, NixonG, DaveyM, WalkerA, TrinderJ, HorneR.Cognitive and academic functions are impaired in children with all severities of sleep-disordered breathing. Sleep Med. 2011;12(5):489–496. doi:10.1016/j.sleep.2010.11.010
17.
MohammedDParkVBogaardtHDockingK. The impact of childhood obstructive sleep apnea on speech and oral language development: A systematic review. Sleep Med. 2021;81(1):144–153. doi:10.1016/j.sleep.2021.02.015.
18.
ThouveninBDjadi-PratJChalouhiC, PierrotS, LyonnetS, CoulyG, AbadieV.Developmental outcome in Pierre Robin sequence: A longitudinal and prospective study of a consecutive series of severe phenotypes. American J Med Genetics Pt A. 2013;161(2):312–319. doi:10.1002/ajmg.a.35773
19.
MalarbiSChisholmAKGunn-CharltonJK, BurnettA, TanT, ChengS, PellicanoA, ShandJ, HeggieA, HuntR.Intellectual functioning of children with isolated PRS, PRS-plus, and syndromic PRS. Cleft Palate Craniofac J. 2024;61(1):33–39. doi:10.1177/10556656221115596
20.
FilipCFeragenKBLemvikJS, LindbergR, AnderssonE, RashidM, MatzenM, HøgevoldH.Multidisciplinary aspects of 104 patients with Pierre Robin sequence. Cleft Palate Craniofac J. 2015;52(6):732–742. doi:10.1597/14-161
21.
GoelDWilsonABaynamGWatersKPillowJRaoS. Neurodevelopmental impairment in children with Robin sequence: A systematic review and meta-analysis. Early Hum Dev. 2025;201(1):1–12. doi:10.1016/j.earlhumdev.2024.106185
22.
GorlinRJCohenMMJr.HennekamRCM. Syndromes of the Head and Neck. 4th ed. Oxford, United Kingdom: Oxford University Press; 2001.
23.
WechslerD. Escala Wechsler Abreviada de Inteligência – WASI: Manual. São Paulo, Brazil: Casa do Psicólogo; 2014.
24.
WechslerD. Escala Wechsler de Inteligência para Crianças: WISC-IV. Manual Técnico. 4th ed. São Paulo, Brazil: Casa do Psicólogo; 2013.
25.
KesselsRPCZandvoortMJPostmaAKappelleLJHaanEH. The corsi block-tapping task: Stardardization and normative data. App Neuropsychol. 2000;7(4):252–258. doi: 10.1207/S15324826AN0704_8
26.
SiqueiraLSGonçalvesHAHübnerLCFonsecaRP. Desenvolvimento da versão brasileira do teste hayling infantil. Trends Psychiatry Psychother. 2016;38(3):164–174. 10.1590/2237-6089-2016-0019
27.
ReyA. Figuras Complexas de Rey. São Paulo, Brazil: Casa do Psicólogo; 2014.
28.
MattosP. TAVIS-4: teste de atenção visual. 4th ed.São Paulo, Brazil: Hogrefe; 2019.
29.
SteinLMGiacomoniCHFonsecaRP. Teste de Desempenho Escolar. 2th ed. São Paulo, Brazil: Vetor; 2019.
30.
MattosPSerra-PinheiroMARohdeLAPintoD. A Brazilian version of the MTA-SNAP-IV for evaluation of symptoms of attention-deficit/hyperactivity disorder and oppositional-defiant disorder. Rev Psiquiatr. 2006;28(3):290–297. 10.1590/S0101-81082006000300008
31.
FernandesFMVSTelesRCVV. Application of the Portuguese version of the obstructive sleep apnea-18 survey to children. Braz J Otorhinolaryngol.2021;79(6):720–726. doi:10.5935/1808-8694.20130132
32.
ChervinRDHedgerKDillonJEPituchKJ. Pediatric sleep questionnaire (PSQ): Validity and reliability of scales for sleep–disordered breathing, snoring, sleepiness, and behavioral problems. Sleep Med. 2000;1(1):21–32. doi: 10.1016/s1389-9457(99)00009-x
33.
SolisRNAulakhSSVelazquez-CastroOS, FarberN, Olarewaju,A, NandalikeK, TollefsonT, SendersC, FunamuraJ.Utility of screening for obstructive sleep apnea with the pediatric sleep questionnaire (PSQ) in children with craniofacial anomalies. Cleft Palate Craniofac J. 2024;61(5):882–887. doi:10.1177/10556656221147815
