ࡱ> m " bjbjLL ;L.;j.;j >>8Tq\b^++++!!!x.|# @!|#|#++З&&&|#++Qh&|#&&b$+N:/vF$4NJV=0z$ e!Z\!@&!4!!!!% !!!|#|#|#|#!!!!!!!!!>Y : BRITISH PAEDIATRIC SURVEILLANCE UNIT Royal College of Paediatrics and Child Health 5-11 Theobalds Road, London WC1 X 8SH Tel: 020 7092 6173 Email:  HYPERLINK "mailto:bpsu@rcpch.ac.uk" bpsu@rcpch.ac.uk Web: www.rcpch.ac.uk/bpsu  Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD)  Abstract Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) is a rare condition which causes life-threatening obesity, trouble breathing at night, a wide range of hormone problems and an irregular heartbeat. Children often need masks and machines to breath at night, take hormone tablets and injections for the rest of their lives, as well as having a greater cancer risk. We do not know why children get this condition and as there is no single test for diagnosis, and it can take a long time for families to get a diagnosis. We do not yet know of any treatments that can cure the condition. This study will help to estimate how many children have ROHHAD, and understand more about the condition and how it is being managed. Principal Investigator Dr Katherine Hawton Paediatric Registrar University Hospitals Bristol and Weston NHS Foundation Trust (UHBW) HYPERLINK "mailto:ROHHAD@uhbw.nhs.uk"ROHHAD@uhbw.nhs.uk  Co-investigators Prof Julian Hamilton-Shield, UHBW Dr Elizabeth Crowne, UHBW Dr Dinesh Giri, UHBW Dr Simon Langton-Hewer, UHBW Prof Tim Barrett, University of Birmingham Dr Juliette Oakley, UHBW Ms Rosemary Greenwood, UHBW Dr Eirin Carolan, Childrens Health Ireland, Crumlin, Dublin Dr Guftar Shaikh, Royal Hospital for Children, Glasgow Dr Georgina Williams, University Hospital of Wales, Cardiff  Website HYPERLINK "/work-we-do/british-paediatric-surveillance-unit/ROHHAD"/work-we-do/british-paediatric-surveillance-unit/ROHHAD  Background We do not know why children get ROHHAD syndrome. There is no single test for diagnosis, and it can take a long time for families to get a diagnosis. We do not yet know of any treatments that can cure the syndrome. As ROHHAD is rare, many doctors in the UK will not have heard of it. We think that more children have this condition than is currently recognised and we want to find out how many children it affects in the UK. We urgently need to know more about ROHHAD and how patients are being cared for by doctors across the UK. We would also like to raise awareness about ROHHAD.  Coverage United Kingdom and Republic or Ireland Duration November 2024 November 2025 (13 months) Research Questions 1) Incidence to estimate how many patients with ROHHAD are diagnosed in the UK and ROI in 12 months. 2) Prevalence - to identify the total number of children in UK and ROI currently with an existing diagnosis of ROHHAD. 3) Clinical presentation to find out about signs and symptoms of patients diagnosed with ROHHAD, including past medical history, weight gain, features of hypothalamic dysfunction, hypoventilation and autonomic dysfunction. 4) Clinical management to collate information on how patients with ROHHAD are currently being managed in the UK and Republic of Ireland, in terms of diagnosis, investigations, screening and treatments. 5) Outcomes: (12-month questionnaire data) to understand about how ROHHAD progresses after diagnosis by collecting follow-up information about clinical features and treatments 12-months later. 6) Impact on patient and their family to include ascertaining the impact on schooling and family life, parents experience of services and support available for the child. 7) To develop and improve diagnostic pathway for ROHHAD, understanding of co-morbidities and their management. Case definition Please report any patients under the age of 16 years with: i) Rapid onset of obesity in childhood after 12 months of age in a previously healthy child a. with evidence of crossing three major centile lines for weight within a 12-month period (e.g. 9th to 75th centile) b. or family photographic evidence of highly significant weight gain in 12 months, in cases with no baseline weight measurement. And ii) Sleep disordered breathing requiring overnight respiratory support Exclusion, any of: i) Evidence of structural abnormality of hypothalamic-pituitary axis on MRI ii) Congenital structural brain abnormality e.g., septo-optic dysplasia iii) Acquired brain injury e.g., craniopharyngioma iv) Other cause identified for obesity e.g., Prader Willi syndrome, monogenic obesity v) PHOX2B variant associated with congenital central hypoventilation syndrome Reporting instructions Please report all existing and new cases you have seen in the last month fulfilling this case definition of ROHHAD (in the UK and Republic of Ireland) not previously notified. Methods Clinicians who report a case of ROHHAD syndrome via the orange card will receive a link to complete a questionnaire on the dedicated BPSU online reporting system. 12-months after the initial case notification  Ethics approval REC, CAG, PBPP Support group FundingROHHAD Association (HYPERLINK "https://www.rohhadassociation.com"https://www.rohhadassociation.com) British Society of Paediatric Endocrinology and Diabetes (HYPERLINK "https://www.bsped.org.uk/"https://www.bsped.org.uk/)  References Harvengt J, Gernay C, Mastouri M, Farhat N, Lebrethon MC, Seghaye MC, Bours V. ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis. J Clin Endocrinol Metab. 2020 Jul 1;105(7) Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Farooqi IS, Rand CM, Weese-Mayer DE. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics. 2007 Jul;120(1):e179-88 Khaytin I, Victor AK, Barclay SF, Benson LA, Slattery SM, Rand CM, Kurek KC, Weese-Mayer DE. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): a collaborative review of the current understanding. Clin Auton Res. 2023 Jun;33(3):251-268     %SyR S T U ޳|iY=Y6jhShTY*5OJQJU\^JmHnHsH uhSh%"Z5OJQJ\^J%hTY*hTY*5;CJOJQJ\^J4jhSh%"ZCJOJQJU^JmHnHsH uhSh%"ZOJQJ^JhShSCJOJQJ^J)hSh%"Z0JB*CJOJQJ^Jph+jhSh%"ZCJOJQJU^J%jhSh%"ZCJOJQJU^JhSh%"ZCJOJQJ^J%SyS U V _ ` b c d n $IfOkd$$Ifl0% )64 la|yto $Ifgd5f $If$a$$|^|a$|^|U V _ `  + a b c d n { | zzzziXJhbKdCJOJQJ^JaJ hbKdhbKdCJOJQJ^JaJ hbKd5CJOJQJ\^JaJ&hSh%"Z5CJOJQJ\^JaJhSh%"ZOJQJ^J# *hbKdh%"ZCJOJQJ^JaJh CJOJQJ\^JaJhTY*#hTY*hTY*CJOJQJ\^JaJhTY*CJOJQJ\^JaJ hSh%"ZCJOJQJ^JaJhTY*CJOJQJ^JaJn { | $ % & ' 8 9 [ ~o 0$*$IfgdbKdOkd$$$Ifl0% )64 la|yto $IfgdbKd 8$If`gdbKd H$If^H`$If   " # $ % & ' 8 9 [ u CDVz{߻߻߻߻xf#jh|CJOJQJU^JaJ hShbKdCJOJQJ^JaJ hSh%"ZCJOJQJ^JaJ&hSh%"Z5CJOJQJ\^JaJhSh%"ZOJQJ^J hbKdhbKdCJOJQJ^JaJ$hshbKd0JCJOJQJ^JaJhbKdCJOJQJ^JaJ#jhbKdCJOJQJU^JaJ"[ u D{p $If`$IfOkd$$Ifl0% )64 la|yto $IfgdbKdmnopqr}~ϼ򫞊xgYggYxE&hSh5f5CJOJQJ\^JaJhTY*CJOJQJ^JaJ hTY*hTY*CJOJQJ^JaJ# *hbKdh%"ZCJOJQJ^JaJ&hSh%"Z5CJOJQJ\^JaJhSh%"ZOJQJ^J hSh%"ZCJOJQJ^JaJ$h4Th|0JCJOJQJ^JaJ#jh|CJOJQJU^JaJ h|h|CJOJQJ^JaJh|CJOJQJ^JaJpqr}~POkd?$$Ifl0% )64 la|yto $IfgdTY*$IfQkd$$Ifl0% )64 la|yto  !"#-./ʽveWeveWeWeF hShj!CJOJQJ^JaJhbKdCJOJQJ^JaJ hShQ:CJOJQJ^JaJhhCJOJQJ^JaJ hSh5fCJOJQJ^JaJ&hSh%"Z5CJOJQJ\^JaJ&hSh5f5CJOJQJ\^JaJhSh%"ZOJQJ^J hTY*hTY*CJOJQJ^JaJ#hTY*hTY*CJOJQJ\^JaJ#hTY*h%"ZCJOJQJ\^JaJ./0C[Okd$$Ifl0% )64 la|yto Okd$$Ifl0% )64 la|yto $If /0CD#B]TUN$%&'>ɸɸ}əl h/c5CJOJQJ\^JaJhTY*CJOJQJ^JaJhX#ECJOJQJ^JaJhSh%"ZOJQJ^J# *hbKdhbKdCJOJQJ^JaJ hTY*hTY*CJOJQJ^JaJ# *hbKdh%"ZCJOJQJ^JaJ&hSh%"Z5CJOJQJ\^JaJ hbKd5CJOJQJ\^JaJ*CD#B 8$If^gdTY*$IfQkdV$$Ifl0% )64 la|yto $IfgdTY* $IfgdQ:]TUN%&'$IfOkd$$Ifl0% )64 la|yto  W$If^`WgdTY* 8$If^gdTY*'>? $$Ifa$gdo $Ifgdo $$Ifa$gdQ:Okd$$Ifl0% )64 la|yto $IfgdQ:$If >? L_®{{{jYH:h/cCJOJQJ^JaJ h/c5CJOJQJ\^JaJ hSh%"ZCJOJQJ^JaJ hSho CJOJQJ^JaJho @CJOJQJ^JaJ$ho ho @CJOJQJ^JaJh/c@CJOJQJ^JaJ&hSh%"Z5CJOJQJ\^JaJhSh%"ZOJQJ^J# *hbKdh%"ZCJOJQJ^JaJ hTY*hTY*CJOJQJ^JaJhTY*CJOJQJ^JaJPQkd$$Ifl0% )64 la|yto $Ifgd&$IfOkdq$$Ifl0% )64 la|yto (IJKlmnopò{i{U{FF{i{U{h/cCJOJQJ\^JaJ'h|D8ho 0JCJOJQJ\^JaJ#ho ho CJOJQJ\^JaJ&jho CJOJQJU\^JaJho CJOJQJ\^JaJ&hSh%"Z5CJOJQJ\^JaJ h/c5CJOJQJ\^JaJhSh%"ZOJQJ^J hSh%"ZCJOJQJ^JaJ hShQ:CJOJQJ^JaJho CJOJQJ^JaJop $IfgdTY* h$If^h$IfQkd/$$Ifl\0% )64 la|yto $If           ҾvhWJB>>B>>hM0jhM0Uh5fh%"ZOJQJ^J hShTY*CJOJQJ^JaJhTY*CJOJQJ^JaJh%"ZCJOJQJ^JaJ hTY*hTY*CJOJQJ^JaJ(hSh%"ZCJOJQJ^JaJmH sH &hShQ:5CJOJQJ\^JaJ&hSh%"Z5CJOJQJ\^JaJhSh%"ZOJQJ^J hSho CJOJQJ^JaJh%"ZCJOJQJ\^JaJ          ! " Qkd$$Iflz0% )64 la|yto       ! " h5fh%"ZOJQJ^Jhj!hM0jhM0U9 01h/R :pTY*. A!"6#$o% DyK bpsu@rcpch.ac.ukyK 0mailto:bpsu@rcpch.ac.uk[$$If|!vh#v#v :V l)655 4a|yto [$$If|!vh#v#v :V l)655 4a|yto [$$If|!vh#v#v :V l)655 4a|yto _$$If|!vh#v#v :V l)655 4a|yto [$$If|!vh#v#v :V l)655 4a|yto [$$If|!vh#v#v :V l)655 4a|yto [$$If|!vh#v#v :V l)655 4a|yto _$$If|!vh#v#v :V l)655 4a|yto [$$If|!vh#v#v :V l)655 4a|yto [$$If|!vh#v#v :V l)655 4a|yto [$$If|!vh#v#v :V l)655 4a|yto _$$If|!vh#v#v :V l)655 4a|yto _$$If|!vh#v#v :V l\)655 4a|yto _$$If|!vh#v#v :V lz)655 4a|yto %x2 0@P`p2( 0@P`p 0@P`p 0@P`p 0@P`p 0@P`p 0@P`p8XV~ 0@ 0@ 0@ 0@ 0@ 0@ 0@ 0@ 0@ 0@ 0@ 0@ 0@ 0@66666_HmH nH sH tH @`@ NormalCJ_HaJmH sH tH DD  Heading 1$$@&a$ 5CJ\H@H  Heading 2$$|@&`|a$5\JJ  Heading 3$p @&^p` 5\BB  Heading 4$$@&a$CJaJHH  Heading 5$$|@&^|a$5\BB  Heading 6$|@&^|5\RR  Heading 7 $ p@&^`5\\\  Heading 8)$$ p @&^`a$5\: @:  Heading 9 $@&5\DA D Default Paragraph FontVi@V  Table Normal :V 44 la (k (No List 2>@2 Title$a$5\6U`6 Hyperlink >*B*phLB@L Body Text$ 0*$a$ @CJaJLP"L Body Text 2$ 0*$a$CJaJ`^2` Normal (Web)dd[$\$B*CJOJQJ^JaJph^CB^ Body Text Indent $ p ^p` a$CJNRRN Body Text Indent 2$^a$NSbN Body Text Indent 3$|^|a$Or &(Style Body Text + 12 pt Bold Italic Char  0*$ @CJaJ/ -Style Body Text + 12 pt Bold Italic Char Char!CJ\]_HaJmH sH tH uHH  Balloon TextCJOJQJ^JaJ44 Header  9r 4 4 Footer  9r FV F FollowedHyperlink >*B* ph8Q@8 Body Text 3$a$4+@4 Endnote Text4/4  Char CharCJaJ>* > Endnote ReferenceH*B' B Comment ReferenceCJaJ<"<  Comment Text"CJaJ@j!"@ Comment Subject#5\Rv!AR bKd0Unresolved MentionB*ph`^\q PK![Content_Types].xmlN0EH-J@%ǎǢ|ș$زULTB l,3;rØJB+$G]7O٭V (BO)MBT.$@0H!A>풠Uc-zD[&!rX=}zC0` ި%.]Ssd--7 +fOZեrŵVœ\lji2ZGwm-3˵j7\ Uk5FҨ-:xRkcr3Ϣ+9kji9OP Et-j|#p;E=Ɖ5Z2sgF=8 K}*7c<`*HJTcB<{Jc]\ Ҡk=ti"MGfIw&9ql> $>HmPd{(6%z:"'/f7w0qBcF6f Iöi1(\}B5ҹ~Bcr6I;}mY/lIz1!) ac 1fm ƪN^I77yrJ'd$s<{uC>== Ƌ(uX=WA NC2>GK<(C,ݖm: &-8j^N܀ݑ$4:/x vTu>*ٞn{M.Ǿ0v4<1>&ⶏVn.B>1CḑOk!#;Ҍ}$pQ˙y')fY?u \$/1d8*ZI$G#d\,{uk<$:lWV j^ZơSc*+ESa1똀 k3Ģxzjv3,jZU3@jWu;z \v5i?{8&==ϘNX1?  O4׹ӧCvHa01 %xz24ĥ=m X\(7Xjg !Ӆqd? cG7.`~w*?, 2 nN*"Fz_&n &\ F:l[+%f ";L U /> " !#%n [ pC' "  "$"mJl"XXXXX8@N(  VB  C D"?VB  C D"?B S  ?S"|`'t'tLLLL LL++6SSh#2AAfnn#8*urn:schemas-microsoft-com:office:smarttagsCity9*urn:schemas-microsoft-com:office:smarttagsplace=*urn:schemas-microsoft-com:office:smarttags PlaceType=*urn:schemas-microsoft-com:office:smarttags PlaceName;*urn:schemas-microsoft-com:office:smarttagsaddress:*urn:schemas-microsoft-com:office:smarttagsStreet GM8= )27>'# #333RSTUV_`+#o    D $>m#RSTUV_`+#o    D $>#(1/e<q<S"bL][Y*Sy*0b+bh#,LRKW.2<.E4r*P6SEd8[SOTz..7Up9+Y֕+[Zݰ KZz [._^v#`7f.@ahzXQbz. zc"~<dg!FFOlhiT8ʷuh#,P6󰿱< KZcDtudJ{\YoY.7U=uo;PQS" zc+Y_CyeJUI.E4i][Y*qW.2OT XQb.@a +[Z((                                    g|        B                 R.o        P~&        j`@        P~&        n                          b                                   VD                                   =        BA        rv                42ZV        z$        R=        B                                                                       6A]6A]] '!6A] 9'! [ak[ak[ak[akw0\] `ff] 3t`ff [ak[ak[ak[ak0/TQ o W3Ghj!##}')TY*M0{2Q:X#EAE9Y%"Z3W`5a_nbbKd5fprTD{&TK|O+-,uSF!xb#h x)+\L/c3 PC4SetupInfo PCDelimEnd 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}{(PCRefList_BPSU_Protocol_Card_FMAIT_21080@"@Unknown G.[x Times New Roman5Symbol3. .[x Arial?:E[@Gotham Book5. .[`)TahomaC. Aptos Display3. Aptos?= .Cx Courier New;WingdingsA$BCambria Math"qhʇ' | +| +!20 3q@P ?j!2! xx&g $British Paediatric Surveillance UnitChild Health SBRLSMDCharlotte Lewis(                           ! " # $ % & ' Oh+'0 (4 T ` l x(British Paediatric Surveillance UnitChild Health SBRLSMDNormalCharlotte Lewis8Microsoft Office Word@G@<V@H @q/v|-1;#BPSU|e8df4953-c830-4db9-8077-11304c88087e Child Health+  %British Paediatric Surveillance Unit Title  E Q m y Uu ?@ABCDEFGHIJKLMNOPQRSTUVWXYZ[\]^_`abcdefghijklmnopqrstuvwxyz{|}~Root Entry F:/vData '1Table/WordDocument;LSummaryInformation(DocumentSummaryInformation8( MsoDataStore :/v:/vJT2RGMZM3==2:/v:/vItem  Properties^Y0WQYKWA==2 :/v:/vItem  Properties bQNSFOMIPMM==2:/v:/vItem HPProperties  !"#$%')*+,-./0123456789:;<=>?DocumentLibraryFormDocumentLibraryFormDocumentLibraryForm This value indicates the number of saves or revisions. The application is responsible for updating this value after each revision. cumentation> This value indicates the number of saves or revisions. The application is responsible for updating this value after each revision. ata/properties/metaAttributes"/>  F Microsoft Word 97-2003 Document MSWordDocWord.Document.89qCompObj&r ՜.+,D՜.+,\ hp  Child Health+  %British Paediatric Surveillance Unit Title4 `l  , H T `lx0 P               _PID_HLINKSProject/ contract end date7display_urn:schemas-microsoft-com:office:office#EditorArchive!k3703cc5d7f8480baebfc783583925cb!i8d57bfa219744c8866d04bb03bc229f Division Document status Order !gb7faaab0d2a420d8131b4157e2a2c2b Information type _ExtendedDescriptionBusiness Activity_Source7display_urn:schemas-microsoft-com:office:office#Author!gf6329374eda4ce38082f827e5661e12!o2776ba2a6a044eca862e598a9de0dccBusiness Function!h82ce1f6f92b47caad720267185734f0Project/ contract status!mfdbdcff64b240c2b92e0232b1849e88 TaxCatchAll!lcf76f155ced4ddcb4097134ff3c332fMediaServiceImageTagsInformation_x0020_typeBusiness_x0020_ActivityDocument_x0020_status+Project_x002F__x0020_contract_x0020_statusBusiness_x0020_FunctionAKG https://www.bsped.org.uk/"+ #https://www.rohhadassociation.com/cuOhttps://www.rcpch.ac.uk/work-we-do/british-paediatric-surveillance-unit/ROHHADV.mailto:ROHHAD@uhbw.nhs.ukj mailto:bpsu@rcpch.ac.uk Jacob Avis,BPSU|e8df4953-c830-4db9-8077-11304c88087eL2;#Research & Quality Improvement|c788aced-109f-432d-9368-116094370ebc100.000000000000E:\Shared\Research & Quality Improvement\BPSU\Team Admin\1. Administration\2. Study administration\2. Application template documents\7. Protocol\Protocol Card Template_v3.docChild Health SBRLSMDHResearch & Quality Improvement|c788aced-109f-432d-9368-116094370ebc01;#BPSU|e8df4953-c830-4db9-8077-11304c88087ex2;#Research & Quality Improvement|c788aced-109f-432d-9368-116094370ebc;#1;#BPSU|e8df4953-c830-4db9-8077-11304c88087e