ࡱ> C( +/ 00DArialSans MSnll4b0DWingdings MSnll4b0  DTimes New Romanll4b00DComic Sans MSnll4b0 BG.  @n?" dd@  @@`` o    , %&    0e0e A@A5%8c8c     ?1d0u0@Ty2 NP'p<'p@A)BCD|E? f33!@8 5M ʚ; %5ʚ;g4DdDdDϫ b0ppp@ <4!d!d8i0l<4dddd8i0lg4:d:dЫ b0p@ pp<4dddd8i0l*0___PPT10 pp___PPT9~zj+, (1? %O =_7 GMaternal Phenylketonuria (PKU) The Birmingham West Midlands ExperienceH ( 0 Di Asplin Clinical Nurse Specialist The Children s Hospital NHS Foundation Trust Birmingham March 2007(kZifK8 Maternal PKU"  Reminder of basics Birmingham experience  guidelines - numbers - audit results Thoughts Men/boys $rs Maternal PKU"  PKU inability to breakdown phenylalanine (phe) to tyrosine (tyr). Newborn screening since 1969 Treatment Low phenylalanine diet Reduce natural protein intake, but have measured amount Protein substitute containing no phe. Blood monitoring oZZ9Z8Z` 98>* Maternal PKU"  2Medical Research Council (1993) Diet for life Phe. ranges for various age groups (BCH) 0-5yrs 100  350 umol/L 5-10yrs 100  450 umol/L 10+yrs 100  700 umol/L Pregnancy (50  250 umol/L) now 100  250 umol/L Management of PKU Consensus Document (1998) (Ideal standards) d!Z7ZZZSbkC. Maternal PKU"  0PKU Register (Archives 2005) 1978  1997 228 pregnancies 110 (50%) diet started pre-conception BW 3160g, HC 33.6cms CHD 2.4% 91 Treatment started during pregnancy BW 2818g, HC 32.7cms CHD 17% Metabolic control by 12-16 weeks gestation had most influence on outcome j  #Maternal PKU Birmingham Experience 6$  4 groups adults never off diet 1993 onwards BCH recommended diet for life returned to diet discontinued diet in teenage years DOB Pre early 70 s never on diet/protein substitute - hyperphe s PP-PPP#PP/PP3333,5/   Maternal PKU"  Difficulties Off diet for many years Little Awareness Accustomed to  normal food Poor cooking/organisational skills Appetite No Protein substitute Lack of support Exchange tolerance varies with each pregnancy Diet Protein intake Energy intake Micronutrients  ZZ +1"#Maternal PKU Birmingham Experience 6$  Guidelines Pre-conception Baseline venous blood Hb, full blood count, Ferritin, Vit B12 Copper, Zinc Selenium Calcium, Albumin, Phosphate All other Amino Acids check folic acid requirements Phe/tyr x 2/week 100  250umol/L including 4hourly profiler1Zq Z_Z q^P1k: Maternal PKU BCH"  Maternal Monitoring Phe/Tyr twice weekly Minimum twice weekly contact with dietitian Monthly Ferritin, B12, Folate, Fbc, Cu, Zn. Maternal weight - monthly Monthly review with dietitian, doctor & nurse Foetal Monitoring Routine scans Detailed scan 20wks @ F  t4  8 R<+#Maternal PKU Birmingham Experience 6$  6aged 16 to 40 years 77 Women of child bearing age including 18 Hyperphe s - never on diet aged 7  16 years 40 girls including 15 Hyperphe s tZlZ'Z!!  !',D @ #Maternal PKU Birmingham Experience 6$  c Ladies born between 1949 - 1984 26 Ladies with some obstetric involvement 42 Children ZdP/ / $Maternal PKU Birmingham Experience H%  7 ladies born before Newborn Screening (1969) 20 children 13 microceph. +/- CHD 6 children inc. 1 set twins no problems (1 died unrelated problems) 1 PKU baby TP       E4$Maternal PKU Birmingham Experience H%  "19 ladies born after Newborn Screening 22 children 10 (classical PKU) ladies 16 children 15 children no problems 1 child has microceph & CHD 3 Hyperphe ladies 6 children 1 lady needed pr. subst. during 2 pregnancies (not during 1st preg) & is currently pregnant & on pr subst 3 ladies currently pregnant 3 ladies low phe s 4 ladies have no children (had misc/term/pregnant) P       <    ''",&0!3 Maternal PKU Birmingham Experience cont. L4 Difference between screened and non screened ladies 20 Ladies born after screening, or treated from birth. Infants = 23 22  Normal infants 1 CHD & microceph Unplanned pregnancies - phe s within guidelines within 2 weeks notification of pregnancy , >6%#Maternal PKU Birmingham Experience :$  "Audit last year Last 12 pregnancies Phe exchanges during preg most started on 4 increased to 10  15 (max 27) Vit & min supplements 7 - needed selenium, 2 - zinc, 1 - B12, 1 - iron 24 hour profile showed average phe variation in 24hr 80 umol/L(range 30  120umol/L) @10Fb%3g 9(#Maternal PKU Birmingham Experience 6$  ;Thoughts When do you start to learn about maternal PKU? :<  0 :)#Maternal PKU Birmingham Experience 6$  How do others learn? Challenges for medical professionals Letters/appointments go to ? Where are adolescents/adults seen? Outpatient staff ask  where is the child? Boyfriend/partners to clinic Limited specialist nurses ? 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P ,$D0 ` T??` P ,$D0 ` T??P ,$D0  ` Tl ?? ,$D0 BFemale (2  ` TEl ?? ,$D0 @Male (2  ` T??  ,$D 0  ` T?? @ ,$D 0  ` T??  ,$D 0 ` T?? 0p ,$D0 ` T?? 0 ,$D0 ` T?? 0 ,$D0 ` T?? 0p ,$D0 ` T?? @ ,$D0B `@  fDp??P ` ,$D0B `  fDp??P  ,$D 0B `  fDp??P  ,$D0B `  fDp??P  ,$D0B `@  fDp??P  ,$D 0B `@  fDp??P  ,$D0B `  fDp??P P  ,$D0B `  fDp?? 0 ,$D0 ` Tl ?? n qPKU Non PKU Carrier> 2 ` T??0,$D0 ` T??,$D0  ` T??0`,$D0 !` T??`,$D0 "` T??0,$D0 #` T??,$D0 $` Tl ??`0Z,$D0 WAll children will be carriers 2H ` 0޽h ? ̙3348,8___PPT10 8.+~D7' `= @B D6' = @BA?%,( < +O%,( < +Dk' =%(D' =%(D' =K@BBBBPB0B%(/%(D' =1:Bvisible*o3>+B#style.visibility<*`%(DA' =%(D' =%(D' =A@BBBB0B%(D' =1:Bvisible*o3>+B#style.visibility<* `%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*`%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*`%(DA' =%(D' =%(D' =A@BBBB0B%(D' =1:Bvisible*o3>+B#style.visibility<* `%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*`%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*`%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*`%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<* `%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*`%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<* `%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*`%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<* `%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*`%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*`%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*`%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*`%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*`%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*`%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*`%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*`%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*`%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*`%(DA' =%(D' =%(D' =A@BBBB0B%(D' =1:Bvisible*o3>+B#style.visibility<*$`%(++0+`0 ++0+ `0 ++0+ `0 ++0+$`0 +K( 0 p%%dI(  d d s *lp@<$D 0  l  d s *^l@<$0 l "8,X d T??P ,$D 0 d T?? P ,$D 0 d T??` P ,$D0 d T??P ,$D0 d Tvl ?? ,$D0 BFemale (2  d T%l ?? ,$D0 @Male (2  d T??  ,$D 0  d T?? @ ,$D 0  d T??  ,$D 0  d T?? 0p ,$D0 d T?? 0 ,$D0 d T?? 0 ,$D0 d T?? 0p ,$D0 d T?? @ ,$D0B d@  fDp??P ` ,$D0B d  fDp??P  ,$D 0B d  fDp??P  ,$D0B d  fDp??P  ,$D0B d@  fDp??P  ,$D 0B d@  fDp??P  ,$D0B d  fDp??P P  ,$D0B d  fDp?? 0 ,$D0 d T|1l ?? n qPKU Non PKU Carrier> 2 d T??0,$D0 d T??,$D0 d T??0`,$D0 d T??`,$D0 d T??0,$D0  d T??,$D0 !d T,0 ??pp F50% or 1 in 2 of baby having PKU 50% or 1 in 2 of baby being a carrierG 2G "d T??  ,$D0 #d T?? 0p ,$D0 $d T??` P ,$D0$ %d Np10??@ ,$D0 rAll children would have PKU :(2 2H d 0޽h ? ̙33: 2 ___PPT10 .+D ' `= @B Dm ' = @BA?%,( < +O%,( < +D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*$d%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*"d%(D4' =%(D' =%(D' =4@BBBB%(D' =1:Bvisible*o3>+B#style.visibility<*#d%(D' =%(D' =%(D@' =A@BB BB0B%(D' =1:Bvisible*o3>+B#style.visibility<*%d%(D' =-o6Bdissolve*<3<*%d+8+0+%d0 + 0 ~(  ~  s *C0  0   s *K00`<$0 0 "8,XH  0޽h ? ̙33___PPT10e.+} <D=' `= @B +  0 0 D(  x  c $0 @ 0    #  00e0e @ 5%8c8c     ?1d0u0@Ty2 NP'p<'p@A)BCD|E?p 0<$D0  0 H  0޽h ? 3f3fff̙3ff̙___PPT10z.+6D' `= @B D' = @BA?%,( < +O%,( < +D ' =%(D' =%(D\' =A@BB BB0B@B%(D' =1:Bvisible*o3>+B#style.visibility<* %(D' ,=-o6Bdissolve*<3<* +8+0+ 0 +r0C=P L] b_e؀0-j+ Y.@.h@Z6P+<rB+WEGK_MPT8`M1Oh+'0 px  0< \ h t 8Maternal PKU The Birmingham/West Midlands ExperiencedasplinPC:\Program Files\Microsoft Office\Templates\Presentation Designs\Capsules.potStening85Microsoft PowerPoint@e@@E@`SHvG8 g  -  y--$xx--'̙--$x x --'--$ 88 --'--*$     acefffec a  --'3f--$ " " ( ((("" "--'--$ ""#$%&'(( ( ""--'@Arial-. ff2 3 Maternal 7."Systemp4-@Arial-. ff2 3;Phenylketonuria.-@Arial-. ff2 3|(PKU)n.-@Arial-. ff2 C>The Birmingham.-@Arial-. ff+2 J/West Midlands Experience.-@Arial-.  2 [Di.-@Arial-. 2 [Asplin.-@Arial-. -2 `tClinical Nurse Specialist.-@Arial-. 2 du The Children.-@Arial-.  2 d.-@Arial-. 2 d s Hospital.-@Arial-. %2 iwNHS Foundation Trust.-@Arial-. 2 n Birmingham.-@Arial-. 2 s March 2007.-՜.+,0    ( On-screen Show Birmingham Childrens Hospitala Arial WingdingsTimes New RomanComic Sans MS CapsulesHMaternal Phenylketonuria (PKU) The Birmingham West Midlands Experience Maternal PKU Maternal PKU Maternal PKU Maternal PKU$Maternal PKU Birmingham Experience Maternal PKU$Maternal PKU Birmingham Experience Maternal PKU BCH$Maternal PKU Birmingham Experience $Maternal PKU Birmingham Experience %Maternal PKU Birmingham Experience %Maternal PKU Birmingham Experience 4 Maternal PKU Birmingham Experience cont. $Maternal PKU Birmingham Experience $Maternal PKU Birmingham Experience $Maternal PKU Birmingham Experience $Maternal PKU Birmingham Experience  Maternal PKU Genetics .Maternal PKU Genetics. $Maternal PKU Birmingham Experience SThanks to You - at 9.15 on a Sunday morning NSPKU But mainly mums, dads, children  Fonts UsedDesign Template Slide Titles_a0SteningStening  !"#$%&'()*+,-./0123456789:;<=>?@ABCDEFGHIJKLMNOPQRSTUVWXYZ[\]^_`abcdefghijklmnopqrstuvwxyz{|}~Root EntrydO)Current UserSummaryInformation(PowerPoint Document(aDocumentSummaryInformation8