1 K Hulme 1984 Bone People. This novel tests Samuel Johnson \200\231s aphorism that \200 \230it is better that a man should be abused than be forgotten \200\231. Read it before mak ing quick judgments about families. 147 A possible sequence of events might be: Unexplained signs (or disclosure, or allegations), eg odd bruising \200\201 \200\230Testi ng of professional hypotheses \200\231 \211\210 weighing it up in your own mind \200\201 \200\230Clari \201 cation by discussion with an experienced colleague \200\231 \211\210 tell your boss \200\201 \200\230Reach a critical threshold of professional concern \200 \231 \211\210 you \200\231re both worried \200\201 \200\230Weigh the pros and cons of br eaking con \201 dentiality \200\231 \211\210 you must breach con \201 den- tiality if do ing so prevents a serious crime against a child. \200\201 \200\230Sharing concerns with s tatutory agencies \200\231 \211\210 phone Social Services/police \200\201 \200\230Act wi thin a timeframe not detrimental to the child \200\231 \211\210 aim to do it now \200\201 \200\230Contemporaneous records detailing all your sources \200\231 \211\210 write it dow n now \200\201 \200\230Preliminary consultation with all concerned \200\231: don \200\231 t promise to keep secrets \200\201 \200\230Strategic multidisciplinary discussion \200 \231 \211\210 is an abuse investigation needed? \200\201 If so, \200\230Instigation of c hild abuse investigation \200\231 \211\210 plan case conference \200\201 \200\230Must pa rents/child be present? \200\231 \211\210 bend the ear of the conference chairman \200 \201 Tell parents & child (if appropriate) what your report to conference will be \200\201 Case conference timed to let doctors ful \201 l their major role \211\210 ?get a locum \200\201 Register your dissent (if any) to the conference conclusions in its minutes \200 \201 Child is placed on a Register indicating that questions of abuse are unresolved and th at the child remains at risk \200\201 \200\230Establish networks for information exchange , discussion & advice \200\231 \211\210 follow up by Social Services, or a national societ y protecting children from cruelty (NSPCC) \200\201 Second (review) conference to weigh ne w evidence \200\201 Death of a child \200\201 Agencies must issue reports to the Area Chi ld Protection CommitteeUK \200\201 Judge issues life sentence ( \200 breadwinner removed from family for 10yrs) \200\201 No \200 role model for siblings \211\210 perpetuation o f cycles of poverty and abuse \200\201 Unexplained bruising in a member of the next genera tion \200\201 Man hands on misery to man* s c i r t a i d e a P M an hands on misery to man. It deepens like a coastal shelf. Get out as early as you can, And don \200\231t have any ki ds yourself Philip Larkin, This Be The Verse Not all our eff orts to protect children end thus. Success es are frequent. And of course this sequence oversimpli \201 es \200 the sign \211\210 is not meant \202 ippantly: it is intended as shorthand, denoting the exercise of re \202 ection, good judgment, action, and the following of agreed procedures. 2 The UK Families at Risk Review (2008) speci \201 es joined-up agencies that \200\230ens ure \200\231 that there is \200\230no wrong door \200\231 that families knock on \200\224a ll doors lead to getting the correct help. Also: \200 Con \201 rm social services referr als in writing \200 Question other \200\231s opinions if you disagree. \200 Document al l phone-calls \200 Record dis- cussions if there is disagreement over risk of deliberate harm. Sudden unexplained infant death (SUID/SIDS) De \201 nition Sudden unexplained infant death re- fers to unexpected death <12 months where a cause is not immediately obvious prior to investigation. It includes deaths due to infection, metabolic errors, accidental suff ocati on and SIDS. Sudden infant death syndrome (SIDS) is \200\230Sudden death under 12 months o ld, which is unexpected after a thorough case investiga- tion, including a complete autopsy , examination of the death scene, and review of the clinical history. \200\231 \200\207SID S is the leading \200\230cause \200\231 of death in infants aged over 1 week old. Epidemio logy Peak incidence: 1 \200\2234 months; risk \200\200 if: poor, parents are smokers, baby is male or premature, winter, previous sibling aff ected by SIDS; co-existing minor upper r espiratory infection is common, co- sleeping. There are many causal theories (see MINIBOX). 148 \200 Putative causes: Obstructive apnoea: \200 Inhalation of milk \200 Airways oedema \200 Passive smoking Central apnoea: \200 Faulty CO2 drive \200 Prematurity \200 Brainste m gliosis Others: \200 Long Q \200\223T interval1 \200 Staph infection2 \200 Overheat ing \200 \200\200Vagal tone or Mg2+ \200\200 \200 Immature diaphragm \200 Genetic & viral causes Sleeping supine ( \200\230back to sleep \200\231, even for short naps), 370 preventing over heat- ing, and cigarette smoke exposure are the chief preventive interventions: risk from p assive smoking is dose-dependent, and often at least doubles risk. 371 s c i r t a d e a P The face is an important platform for heat loss \200\224and it is known that the incidence of SIDS is 5 \200\22310-fold higher among infants usually sleeping prone (17- fold higher if sleeping in a room separated from parents): \200\207so always recom- mend sleeping supi ne. Advise as follows: \200 Do not overheat the baby \200\231s bedroom. Aim for a tempera ture of 16 \200\22320 C. \200 Do not use too much bedding, and avoid duvets if less than 1 year of age. \200 If ill or feverish, consult a GP \200\224do not increase the amount of bedding. \200 Have feet come down to the cot \200\231s end to avoid under-blankets mig ration. \200 While sleeping, avoid heaters, hot water bottles, electric blankets, and hat s. Do wrap up for trips out in winter, but unwrap once indoors, even if this means disturbi ng the baby. Never tuck in blankets higher than the armpit. 372 \200 Babies >1 month do n ot need to be kept as warm as in hospital nurseries. \200 Avoid co-sleeping if possible a nd never, even if very tired (new parents!), if parents are deep sleepers, or if they have had any alcohol or drugs. 373,374 Autopsy is unrevealing; minor changes are common; petechi al hemorrhages over pleura, pericardium, or thymus, and vomit in the trachea may be agonal events. Causes to exclude: sepsis, metabolic defects (eg MCAD de \201 ciency; me- dium-cha in acyl-CoA dehydrogenase \200\201, p183); heart defects; and always bear in mind the possi bility of murder. Action after failed resuscitation in the Emergency Department \200 Docu ment all interventions, venepuncture sites, and any marks on the baby. You don \200\231t ha ve to keep all tubes in situ, but ensure that someone who did not intubate con \201 rms en dotracheal placement of the tube before extubation. i Take samples of blood for culture, CSF for culture/PCR, urine, and stool. \200 Keep all c lothing and the nappy. \200 Explain clearly to parents that despite your best eff orts, t he baby has died. \200 Unless the cause is obvious, be non-committal about cause of death . Explain the baby must have a post mortem (this is a coroner \200\231s case). Contact the consultant on call, the police, child protection team, and the coroner at once; also GP, health visitor, and any other involved professions. 1 Risk \200\200 if Q \200\223T corrected for rate (QTc) \200\206440msec. QTc=(Q \200\223T) /( \200 R \200\223R.375,376 LQTS genes are important.377 2 Staphs in mattress foam are impl icated ( \200\230 do not reuse); Jenkins 2005378,379 How the GP can help the family on the \201 rst day \200 A prompt visit to express sympa thy emphasizing that no one is to blame. \200 Explain about the legal requirement for an autopsy and coroner \200\231s inquest. 149 The parents may be called upon to identify the body. \200 Bedding may be needed to help \201 nd the cause of death. Subsequent help Don \200\231t automatically suppress lactation , but if this becomes necessary caber- goline (250 g/12h PO for 48h) is preferred to bromo criptine. NB: continued lac- tation may be an important way of grieving for some mothers. M any parents will not want anxiolytics, but may want hypnotics. Advise the parents of likely grief reactions (guilt, anger, loss of appetite, hear- ing the baby cry). Make sure that t he coroner informs you of the autopsy re- sult; take some trouble to explain these to the p arents. They should already have a routine appointment with a consultant pediatrician. This can provide helpful reinforcement and encouragement to the parents and yourself. The paren ts may \201 nd an electronic apnoea alarm reassuring in caring for later infants. Ask if they would like to join a self-help group. Programs exist to prevent a future SID \200\224e g the CONI program (care of next infant). s c i r t a i d e a P Screening and child health promotion The main aims: \200 Encouraging breastfeeding (p124) \200 Monitoring development \200 Immunization \200 Overseeing growth (p180) \200 P arental support \200 Education and reassurance about normal childhood events. \200 Talk ing to the child, and building up a good relationship to be used in later illnesses. 380 Mo nitoring The most cost-eff ective times to screen are unknown. A best buy might be checks a fter birth (p114), at 4 \200\2236 weeks; arrange vaccinations and DoH vitamin drops (A, D & C, unless sure that diet/sunlight is adequate1), then: 1 \200\2239 months: 18 \200\22324 m onths: 150 \200 Hips, testes descent, CVS examination. Educate on diet, dental care, accidents; walking (lo ok for wad- dling), social and linguistic milestones; Hb if iron de \201 ciency likely \200\224it may well be. Any parental depression? Testes descent, CVS examination. Nutrition , dental care. 4 years: At each visit: \200 Encourage airing of queries \200 Ask about, and test for, squint, vision and deafness \200 Chart centiles. Beware reading too much into a single te st. Remember to correct age for prematurity. Note the milestones below. There is much indiv idual variation. 1 month: 2 months: 4 months: Lifts head when prone; responds to bell; regards face. Holds head at 45 when prone; vocal izes; smiles. Uses arm support when prone; holds head steady when supported while sitting; reaches out; spontaneous smiling. Bears some weight on legs; on pulling to sitting, there i s no head lag; reaching out; transfers things from hand to hand. Just stands; walks using a table \200\231s support; clashes cubes; pincer grip; can say \200\230Mummy \200\231 \200\230Daddy \200\231. Plays \200\230pat a cake \200\231. Can walk backwards; scribbles; 2-cube tower. 2 \200\2234 words. Rec- ognizes/shows interest in TV images, eg of a dog. NB: drooling throwing items on the \202 oor is abnormal by now. Kicks a ball; overarm \200\230bowling \200\231; gets undressed. Jumps; can stand on one foot; copies; can build a n 8-cube tower; knows his \201 rst and last name; dressing needs help. 4 years: Stands on 1 foot for >4sec; picks the longer of 2 lines. Health promotion in refugee children/asylum -seekers Unaccompanied children may request asylum explicitly or implicitly. Our job is to look after them, not to interpret laws. \201\201Tell immigration offi cers/police that chi ldren cannot be detained even if there is doubt about a child \200\231s age. UK immigration offi cers must abide by the UN convention on the Rights of the Child (1989). This stipulat es that each State must ensure the rights of each child within its jurisdiction without dis crimination of any kind. Any child who has been tortured has the right to physical and psy- chological recovery and social integration. (Prison is not a form of social integra- tion. ) Take any opportunity to promote children \200\231s health. If from areas of chronic con \202 ict, don \200\231t assume the child has been vaccinated. Start from scratch. Test for TB (skin test) and give BCG, or refer to a chest clinic if needed. See Home Offi ce 381 & R oyal College Guidelines. \200\225382 Pediatricians and GPs can promote refugee health by: \200 Documenting development, ensuring nutrition, and treating physical illness. \200 E asing access to antenatal and all other preventive care activities. \200 Identifying depr ession/anxiety, and picking up clues that torture may have taken place: nightmares; halluci nations; panic attacks; sexual problems; pho- bias; diffi culties with relationships. These may also be signs that the child has been recruited to \201 ght other people \200\231s w ars. Treating childhood depression is controversial (SSRI, p390) but not treating it may be worse. 383 \200 Recognizing and treating TB and HIV (eg if vertically transmitted, look for persistent oral candida, caries, UTIs, widespread lymphadenopathy, hepato- splenomegaly ; failure to thrive; developmental delay). See p145. s c i r t a d e a P i 6 months: \211 1 year: 18 months: 2 years: 3 years: Liaising with social services to ensure housing and schooling. 151 DoHUK 2012384 2 months Pediacel , ie 5-in-1 diphtheria + tetanus + acellular pertussis + i nacti- vated polio + haemophilus B (HIB); if prem, still give at 2 months; can give if \211 10 yrs if missed vacs + Prevenar 13 (13-valent pneumococcal). Immunization schedules 3 months Pediacel + Neisvac C or Meningitec (Meningitis C vaccine) 4 months Pediacel + Prevenar 13 + Neisvav C or Meningitec 12 months Menitorix (H. in \202 uenzae w ith meningitis C) 13 months MMRL or Priorix L (Measles, Mumps & Rubella) + Prevenar 13 3 \200\2235yrs Repevax or Infanrix-IPV (Diphtheria, tetanus, pertussis & polio) + Priorix L or MMRL 13 \200\22318+yrs Revaxis (low-dose diphtheria, tetanus, inactivated polio; can also be used for primary vaccination if >10yrs). Gardasil (against human papilloma virus) prot ects somewhat against cervical cancer: see p272. Zostavax for herpes zoster (licensed but not marketed in UK) 385 BCGL (not universal in UK) If at \200\200risk of TB, eg for all f rom high-preva- lence country, ie >40 : 100,000/yr, or a visitor to such a country for >1 m onth. May start at 3 days old. Hepatitis B: p263; universal (WHO ad- vise) or if at \200 \200risk. MMRL may be given at any age if presents late. One- off pneumococcal vaccine with 23-valent Pneumovax II (Preve- nar 13 \211\2102, as above, if <2yrs); yearly \200\231 \202 u vaccine if risk \200\200: see OHCM p390. Consider 2nd pneumococcal vaccine if at \200\200risk after >5yrs. 386 Pertussis (as Repevax ) and \202 u, as indicated. s c i r t a i d e a P 70 \200\22380yrs Any age Pregnant Adults any Tetanus and diphtheria boosters (Revaxis , as above). Travelers: p367. \200\207An acute febrile illness is a contraindication to any vaccine. Note: Give live va ccines either together, or separated by \211 3 weeks. Don \200\231t give live vaccines if primary immunode \201 ciency, or if on steroids ( \200\2062mg/ kg/day of prednisolone); bu t if HIV+ve, give all immunizations (including live) except for BCG, in areas where TB prev alence is low. Hepatitis B (Engerix B ): see OHCM p262. Give at birth, 1 & 2 months, if mo th- er is HBsAg +ve \200\2240.5mL IM via anterolateral thigh. If birthweight \211 1500g gi ve Hep B immunoglobulin as well as vaccine, regardless of mother \200\231s e-antigen status . If at term, give Hep B Ig unless mother is anti-HBe +ve. HPV vaccination to prevent cervi cal cancer: see p272. Chickenpox vaccination: In the USA this is routine and has greatly re duced incidence and hospitalizations/mortality. 387 Eradication is impossible. Immunization in immunode \201 ciencies: See Royal College Guidelines. Can the pain of the injection be reduced? Topical lidocaine \200\223prilocaine 5% cream (EMLA ) and oral glucose at the ti me of vaccination does decrease the latency to 1st cry, and other objective markers of pain . 388 MMR is not just for children: In the UK, in 2005, mumps rates rose 10-fold (to 5000/m onth), eg among students who were too old to have had full vaccina- tion. Any non-immune ad ult is eligible for MMR (exclude pregnancy). If >18 months, the 2 doses of MMR should be se parated by 3 months. MMR vaccine may also be off ered to unimmunized, or measles-only immun ized or seronegative post-partum women. Does MMR vaccine cause autism? No. Large-scale stud - ies \201 nd no link and The Lancet has withdrawn the paper suggesting a link. Some pare nts prefer single M, M, & R injections, but the rationale is unclear. What sort of needle? For IM vaccination, WHO advises that needles are 25mm long (blue in the UK). 389 Stretch th e skin \202 at between thumb and fore \201 nger to aid a deep injection \200\224and make the angle (needle to skin) 90 . The subcutane- ous route is OK for MMR; bunch the skin up , and inject at 45 into fat. 1 Adequate sunlight to prevent rickets is a big issue, especially north of Oxford (51 45 \200\231) as uv-B is too scarce to make active vitamin D in winter.390 \200\223392 Risk of rickets \200\200 if: skin pigmented; sunscreens or conceal- (the old and institutionalized are at \200\200risk too); ing clothing used; staying indoors to play video-games obesity; malabsorption; renal and liver disease; using anticonvulsants. Good vit. D status in pregna ncy (p8) helps neonatal bones, immune function, and lungs (asthma risk \200\201 by 40% ).39 3 Genetic disease and prevention \200\207It is as important to be able to love the handicapp ed and to respect their carers as it is to prevent the handicap; in doing the \201 rst we become more hu- man. In the second, do we risk our own inappropriate dei \201 cation? Gen e probes use recombinant DNA technology to identify speci \201 c muta- tions causing genet ic diseases (eg Huntington \200\231s chorea; muscular dystrophy; polycystic kidneys; cystic \201 brosis; thalassaemias) to DNA markers scattered throughout our genome. Using fetal DNA from amniotic \202 uid cells (amniocente- sis) in the 2nd trimester, or from chorioni c villus sampling in the 1st. Enzyme defects Many of the inborn errors of metabolism can be diagnosed by incubation of fetal tissue with a speci \201 c substrate. Chromosomal studie s can be undertaken on cultured cells or on direct villus preparations. The most important abnormalities are aneuploidies (abnormali- ties in chromosome number) \200\224eg trisomy 21 , 18, and 13. Screening for chromosomal abnormalities (eg the fragile X syndrome, p648) may be performed on at-risk mothers who may be carriers. Non-disjunction After meiosis one gam ete contains two chromosomes 21 (say)11 and the other gamete has no chromosome 21. After un ion of the 1st gamete with a normal gamete, the conceptus has trisomy 21, and develops Down \200\231s syndrome (50% spontaneously abort). This is the cause in \211 88% of Down \200 \231s babies, and relates to maternal age (p12). Robertsonian translocations ( \201 g 1) e n- tail a fusion between the centromeres of 2 chromosomes with loss of the short arms formi ng a chromosome with two long arms, one derived from each chromosome. They involve any 2 of chromosomes 13, 14, 15, 21 & 22 (all acrocentric, ie the centromere is close to one end; t he short arms contain few genes). This translocation trisomy 21 is the cause in 4% of Down \200\231s syndrome (unrelated to maternal age). If the father carries the translocation, ri sk of Down \200\231s is 10%; if it is the mother, the risk is 50%. 0.3% of mothers have thi s translocation. Balanced translocations entail no net gain or loss of chromosomal material , two chromosomes have been broken and rejoined in the wrong combination. Mosaicism A triso my may develop during early divisions of a normal concep- tus ( \200\230 somatic, not germl ine). If the proportion of trisomy 21 cells is low (eg 4%) CNS development may be \200\230 normal \200\231. It accounts for \211 8% of Down \200\231s babies. 394 Other chromosomal a bnormalities Edward \200\231s (p642), Klinefelter \200\231s (p646), Pa- tau \200\231s (p650 ), and Turner \200\231s (p655) syndromes. In the cri-du-chat syndrome there is deletion of the short arm of chromosome 5, causing a high-pitched cry, CVS abnormalities, microcephaly, widely spaced eyes, and a \200\230moon \200\231 face. Down \200\231s syndrome Causes: See above. Recognition at birth: Flat facial pro- \201 le, abundant neck skin, dysplastic ea rs, muscle hypotonia, and x-ray evidence of a dysplastic pelvis are the most constant featu res. Other features: see BOX. Widely spaced 1st & 2nd toes and a high-arched palate are mor e visible later. If uncertain, it is best to ask an expert \200\231s help, rather than baff l e the mother by taking karyotype tests \200\234just in case it \200\231s Down \200\231s \200\235.2 Associated problems: Duo- denal atresia; VSD; patent ductus; AVSD (foramen primu m defects, p136); and, later, a low IQ and a small stature. Helping the mother accept her ( often very lovable) child may be aided by introducing her to a friendly mother of a baby wi th Down \200\231s syndrome. Prenatal diagnosis: p10 \200\22312. 152 \200 s c i r t a d e a P i Short arms are lost Two acrocentric chromosomes Fig 1. A chromosome with 2 long arms. A Robertsonian translocation 1 Chromosome 21 contains only 225 genes: most of its DNA is apparently meaningless. 2 Even in good hands, accuracy of suspicion is only 64%, so at some stage karyotyping is needed.39 5 153 Ways of looking at genetic diseases such as Down \200\231s syndrome The swot \200\231s appr oach: Learn the clinical manifestations \200\224it might be asked in an exam. In the case o f Down \200\231s syndrome, this person will focus on features such as a simian palmar creas e, hypotonia, \202 at face/round head, protruding tongue, broad hands, upward slanted pal pebral \201 ssures and epicanthic folds, speckled irises (Brush \201 eld spots); mental and growth retardation; pelvic dysplasia, cardiac malformations, short, broad hands, hypopl asia of middle phalanx of (incurving) 5th \201 nger, intestinal atresia, and high arched palate. Associations learned about: \200 396 \200 Lung problems (lung capacity is Congenital heart disease (40%) \200 Digestive problems 6% \200 Leukemia reduced in almost 100%) . t e g Hearing loss (60%) \200 44% survive to age 60 yrs. 50% of adult survivors develop Alzheim er \200\231s. n a c s c i r t a i d e a P e w y d d u m w o h The problem with this approach is that it does not make us good doctors because it is not m uch help to people and their families. The dangerous young idealist: Down \200\231s syndrom e is preventable. The focus should be on prenatal diagnosis and termination of aff ected fe tuses. Down \200\231s cases are unfortunate. They are a burden to the State (he might argue ). Their claims on scarce health resources are burdensome. Normal people should take priori ty. t s u j e e s s \200\231 t e l o s \200 t h g u o h t The problem with this approach is that no-one is ge- netically normal. This man has engaged in too much abstract thought, and as Dostoevsky has said: \200\230too much abstract thoug ht makes men cruel \200\231. Crime and Punishment The health needs approach: This approach starts by asking: How can I help? Health maintenance for Down \200\231s children is more im portant, not less, compared with the needs of other children \200\224because their families are vulnerable, and many conditions are more likely in those with Down \200\231s. Examples are otitis media, thyroid disease, congenital cataracts, leukaemoid reactions, dental prob lems, and feeding diffi culties.397 The patient-centered approach: Let \200\231s go down to the farm and milk the cow. Let \200\231s see how muddy we can get \200 t c a r t s b a Fig 1. Dostoevsky. Courtesy of Dr C Joyce. f o s r e t a w e h t s e i d d u m y k s v e o t s o D Diff erent approaches are needed at diff erent times: a key skill in becom- ing a good doct or is to be able to move seamlessly from one approach to another \200\224and knowing when t o adopt which approach. The American College of Medical Genetics screens for: Amino acid disorders: Arginosuccinic acidaemia Citrullaemia Homocystinuria Maple syrup urin e disease Phenylketonuria Tyrosinaemia type 1 Other congenital diseases: Biotinidase de \201 ciency Adrenal hyperplasia Hypothyroidism Cystic \201 brosis Galactosaemia Hearing d isorders Organic acid disorders: \200 -ketohiolase de \201 ciency Glutaric acidaemia type 1 Hydrox ymethylglutaric acidaemia Isovaleric acidaemia 3-methylcrotonyl-COA carboxylase de \201 ci ency Methylmalonic acidaemia Multiple carboxylate de \201 ciency Propionic acidaemia Fatty acid disorders: Carnitine uptake defect Long-chain hydroxyacyl- coa dehydrogenase lac k Medium-chain acyl-COA dehydrogenase de \201 ciency Trifunctional protein de \201 ciency Very-long-chain acyl-COA dehydrogenase de \201 cit Hemoglobin disorders: Hb S/ \200 -thal assaemia Hb S/C disease Sickle-cell anemia The great question is: Just because a disease can be screened for, should it be screened fo r? Answer: Only if the Wilson criteria are met: see p486. Genetic counseling Goal To provide accurate, up-to-date information on genetic conditions t o en- able families and patients to make informed decisions. \200\207Genetic counseling is best done in regional centers to which you should re- fer families (nearest center: UK tel .: 020 7794 0500). Don \200\231t do blood tests on chil- dren lightly which might have long -term consequences, unless some form of treatment is available. The child may never forgive you for labeling him or her. In order to receive most bene \201 t from referral: \200 T he aff ected person (proband) ideally comes with family (spouse, parents, 154 \200 children, siblings); individuals can of course be seen alone as well. The family should be informed that a detailed pedigree (family tree) will be made, and medical details of distant relatives may be asked for. Irrational emotions (guilt, blame, anger) are common. Deal with these sensi- tively, and do not ignore. Remember: you do not choose your ancestors, and you cannot control what you pa ss on to your descendants. Warn patients that most tests give no absolute \200\230yes \200\231 or \200\230no \200 \231 but merely \200\230likely \200\231 or \200\230unlikely \200\231. In gene tracking, w here a molecular fragment near the gene is followed through successive family members, the degree of certainty of the answer will depend on the distance between the marker and the ge ne (as crossing-over in meiosis may separate them). s c i r t a d e a P i Accept that some people will not want testing, eg the off spring of a Hun- tington \200\231 s chorea suff erer \200\224or a mother of a boy who might have fragile X syndrome, but who understandably does not want her off spring labeled (employment, insurance, and social reas ons). Off er a genetic referral to en- sure that her decision is fully informed (but rememb er: \200\230being fully informed \200\231 may itself be deleterious to health and wellbein g). Naming chromosomes Autosomes are numbered 1 to 22 roughly in order of size, 1 being the lar gest. The arms on each side of the centromere are named \200\230p \200\231 (petite) for th e short arm, and \200\230q \200\231 for the long arm (there \200\231s always a long Q for a short P). Thus \200\230the long arm of chromosome 6 \200\231 is written \200\2306q \200 \231. Chromosomal disorders include Down \200\231s (trisomy 21, p152), Turner \200\231s (45 ,X0, p655) and Klinefelter \200\231s (47,XXY, p646) syndromes. Many genes are involved when the defect is large enough to be seen microscopically. Autosomal-dominants Adult polycysti c kidney (16p), Huntington \200\231s chorea, (4p). A single copy of a defective gene causes damage. Some people inheriting the defective gene are phenotypically normal (=reduced pene trance). Autosomal recessives Infantile polycystic kidney; cystic \201 brosis (7q), \200 -thalassaemia, sickle cell (11p), most metabolic conditions, and almost all which are fata l in childhood. In general, both genes must be defective before damage is seen, so carriers are common. Both parents must be carriers for off spring to be aff ected, so consanguinity (marrying relatives) increases risk. X-linked Duchenne muscular dystrophy, p642; hemophili a A & B; fragile X (p648). In female (XX) carriers a normal gene on the 2nd X chromosome pr e- vents bad eff ects manifesting. Males (XY) have no such protection. NB: being pregnant a nd unwilling to consider termination does not exclude one from undergoing useful genetic co unseling. \200\230Couple screening \200\231 A big problem with counseling is the unnecessa ry alarm caused by false +ve tests. In cystic \201 brosis screening (analysis of cells in mouthwash samples) this is reducible by 97% (0.08% vs 3.2%) by screening mother and father together \200\224who need only get alarmed if they both turn out to be screen-positive. Th e trouble with this is false reassurance. Many forget that they will need future tests if t hey have a diff erent partner, and those who do not are left with some lingering anxieties. 155 Genetic counseling to try to in \202 uence pregnancy outcome? Three contrasting principles : 1 The parents must decide: counseling must be non-directive. 2 Every newborn child has th e right to be born healthy, if possible. 3 Every child has a right to be born. Non-directiv e counseling is something of a mantra among counselors, partly as a reaction to Nazi eugeni c abuses, and partly because of an un- willingness to promulgate a single view of what is r ight in what can be a very complex area. Public health doctors are questioning this obedien ce to the non-directive ethic because, from their point of view, it makes attain- ment of t heir chief goal more diffi cult \200\224namely to improve the health and wellbeing of all r esidents, including newborns. For example, we should tell pregnant women not to drink much alcohol, public health doctors assert, be- cause this is necessary to prevent the fetal alc ohol syndrome. The same goes for other syndromes. When we know what to do we should state c learly and unequivocally what the mother should do. This is our duty to her and her unborn child. s c i r t a i d e a P Let us examine the public health doctor \200\231s standpoint more closely. He wants to impr ove health. To do this, it is necessary to de \201 ne health. We have done this elsewhere (p470) and have argued that health entails more than just soundness of body and mind. It is not clear that an autocratic society in which patients were told what to do would be more healthy than a society of autonomous individuals each addressing the great questions of hea lth and existence from his or her own viewpoint. Another problem for the public health doctors is that, in the case above, it is not clear w hether the directive \200\230don \200\231t drink if you are pregnant \200\231 would lead t o fewer children with the fetal alcohol syndrome. It might lead to more orphans (a mother k nows she is doing wrong, feels guilty, avoids health professionals, and dies of some unfore seen consequence of pregnancy, or from guilt-borne suicide). 398 As ever, the way forward is not by abstract thought but by getting to know our patients bet ter. There may be rare occasions when we know our patients well enough to risk \200\234You are mad not to follow this advice \200 \200\235. But mostly we can- not be sure that this injunction will work, and it is wiser to explore the patient \200\231s world view and thei r expectations, and then use this knowledge to reframe the bene \201 ts of our proposed ac tion in a way that makes sense to the individual concerned, taking into account his or her culture and system of beliefs. In the UK, the Children \200\231s Act states that the welfare of the child is para- mount. What this means in the context of a family is open to interpretation. Preventing adult diseases \200\224starting in childhood Childhood obesity is rising fast in the West.1 Half the children born in the UK will soon be obese \200\224by the time they ar e 10 399 \200\224with inevitable consequences for heart disease and cancer. It is known fo r example that there is a higher preva- lence of colorectal cancer in men who were overweig ht during adolescence. Similar eff ects are seen for cancers of the endometrium, kidney, ga llbladder, and breast. 400 Consequences vis vis insulin resistance: >30% of obese childr en have insulin resistance (detailed on p252),2 and 25% of all adolescents have 3 or more features of the metabolic syndrome X: obesity, hypertension, dyslipidaemia, and poor glycae mic control. 401 \200\207Risk factors for adult heart disease and DM begin to cluster in \200\230normal \200\231 children. 402 Primary prevention must start in childhood. Hence the need for recognizing small diff erences from normal in apparently health children. See BP table below, and p226 for centile BMI charts de \201 ning obe- sity by age. But do not foc us exclusively on weight. Insulin resistance starts be- fore the teenage years \200\224and may occur in children of near-normal weight. 403 UK incidence of type 2 DM in children: 0.2 : 100,000 404( \200\200 \211\21013 if Asian). When to start prevention? It is never too ea rly (obesity can start with bottle feeding) 405 \200\224and it \200\231s often too late. Re -educate parents, teachers, and children; encourage exer- cise \200\224and less: \200 Fas t foods 406 \200 Soft drinks 407 \200 TV 408 \200 Sun-bathing (melanoma). 409 Cogniti ve therapy (p373) may be the best approach to re-orientate adolescents towards health. 410 156 \200 s c i r t a d e a P We assume that growth and development somewhere in the middle of our centile charts is opti mal. But these charts are not goals \200\224they are statements of heights and weights for particular historical populations. Now population weights are moving up, what appears norma l to parents (and us) may in fact be detrimental. For example, in Plymouth, in the UK, mean weights of toddlers are now 460g heavier than the historic reference population. 411 Age ( Years) Systolic mmHg Diastolic mmHg Systolic mmHg Diastolic mmHg Birth <2 3 \200\2235 6 \200\2239 10 \200\22312 13 \200\22315 16 \200\22318 Take \211 3 BPs (snugly \201 tted cu ff of bladder-width >75% of upper arm length) >1 week apart (in general) before diagnosing hypertension. As the 5th Korotkoff sound (k5) is inaudible, use k4 for diastolic BPs, until adolescence. Some BP standards break populations by age, sex, and height, but this doesn \200\231t greatly change hypertension prevalence. 412,413 Ambulatory BPs can show that whit e coat hypertension is about as common in children as in adults. 414,415 But beware automat ed devices: mercury sphygmomanometers are more accurate, and are of negligible risk to heal th. i Signi \201 cant hypertension Severe hypertension \211 96mmHg3 \211 112 \211 116 \211 122 \211 126 \211 136 \211 142 \211 106mmHg3 \211 118 \211 124 \211 130 \211 134 \211 144 \211 150 \211 74 k4 \211 76 k4 \211 78 k4 \211 82 k4 \211 86 k5 \211 92 k5 \211 82 k4 \211 84 k4 \211 86 k4 \211 90 k4 \211 92 k5 \211 98 k5 1 Health Survey 2005; >25% are currently overweight/obese.416 2 Viner R 2005 Arch Dis Child 90 10417 Correlates of \200\230normal children \200\231 in the top quintile of postprandi al glucose (7.4 \200\22311.4mmol/L): Lower vasodilatation to acetylcholine (Ach, P <0.005) and sodium nitroprusside (SNP, P <0.0 2) than those in the lower quintile (3.9 \200\2234.9mmol/L). \200\200Waist-to-hip ratio and \200\200fasting insulin resistance. \200 \200\200Fastin g triglycerides & cholesterol (r \200\2230.4, P <0.05).418 MODY \200\223maturity onset diab etes of the young. 3 Doppler may be needed. Often only systolic BPs are recordable. Values need adjusting if taller or short- er than expected for age (tables are available); compare d with a 50th height-centile the reference interval is 1 \200\2234mmHg lower for a child on the 5th height-centile (1 \200\2234mmHg higher if on 95th centile).419 157 Causes of raised blood pressure in children Neonates: Renal artery stenosis (or thrombosis) , congenital renal malforma- tions, coarctation of the aorta, bronchopulmonary dysplasia. I nfants: Renal parenchymal disease, coarctation, renal artery stenosis. 6 \200\22310yrs olds : Renal artery stenosis, renal diseases, primary hypertension. Adolescence: Primary hyperte nsion, renal diseases, syndrome X. s c i r t a i d e a P