In R v Byrne (1960) 44 Cr App R 246 \200\230abnormality of mind \200\231 was inter- preted widely: \200\230A state of mind so different from that of ordinary human beings tha t the reasonable man would term it abnormal. It appears to us to be wide enough to cover th e mind \200\231s activities in all its aspects, not only the perception of physical acts an d matters and the ability to form a rational judgment whether an act is right or wrong, but also the ability to exercise will-power to control physical acts in accordance with that r ational judgment. \200\231 Scotland: these were recently set out in Galbraith v H MA Advocate 2001 SCCR 551. The concl usions of the court were: \200\230In essence, the judge must decide whether there is evide nce that, at the relevant time, the accused was suffering from an abnormality of mind which substantially impaired the ability of the accused, as compared with a normal person, to de termine or control his acts. \200\231 \200\230Psychopathic personality disorder \200\231 a nd voluntary intoxication are excluded. The effect of a \201 nding of diminished responsi bility is that the accused is found guilty of culpable homicide rather than murder. NI: Criminal Justice Act (NI) 1966 de \201 nes the defense of \200\230impaired mental res ponsibility \200\231: \200\230Where a party charged with murder has killed or was party to the killing of another, and it appears to the jury that he was suffering from mental abnor mality which substantially impaired his mental responsibility for his acts and omissions in doing or being party to the killing, the jury shall \201 nd him not guilty of murder but shall \201 nd him guilty (whether as principal or accessory) of manslaughter. \200\231 RoI: s6 Criminal Law (Insanity) Bill 2002 \200\230Where a person is tried for murder and t he jury or, as the case may be, the Special Criminal Court \201 nds that the person \200 \224(a) committed the act alleged, (b) was at the time suffering from a mental disorder, an d (c) the mental disorder was not such as to justify \201 nding him or her not guilty by reason of insanity, but was such as to diminish substantially his or her responsibility for the act, the jury or court, as the case may be, shall \201 nd the person not guilty of t hat offense but guilty of manslaughter on the ground of diminished responsibility. \200\231 17_Semple_Chap17.indd 723 12/7/2012 3:49:51 PM CHAPTER 17 Forensic psychiatry 724 Assessing \200\230mental state at the time of the offense \200\231 Clinical examination \200 Necessitates the reconstruction of the circumstances of the offense and in particular the m ental state of the accused at that time. Along with interviewing the accused it is extremel y helpful to peruse witness statements, police reports, and transcripts of police interview s (or if possible, to view videotaped interviews). Other important sources to help with \200\230retrospective \200\231 assessment: \200 \200 Relatives, or other persons, who knew the defendant at the time. Any psychiatric assessment carried out soon after the offense (if the police or court were suf \201 ciently concerne d about their mental state). Any records of contact with psychiatric services at the time, and the views of relevant staff who were involved in these contacts. Putting the legal criteria into clinical terms For insanity at the time of the offense: \200 The accused should have been suffering from a severe mental disorder which was the overwhel ming factor in determining the occurrence of the offense. There should be a clear relations hip between the offense and the symptoms of the mental disorder. However, it should be note d that the criteria for insanity at the time of the offense in Scotland, NI, and the RoI ar e broader than not knowing what one is doing or that it is wrong, and encompass an inabilit y to control one \200\231s actions due to mental disorder (see criteria on b p. 721). Diagn oses that may be relevant: dementia and other chronic organic disorders (including those se condary to alcohol or drug misuse); delirium (including delirium tremens); schizophrenia an d related psychoses; severe affective disorders with psychotic symptoms; severe LD. Note: in most successful cases the diagnosis is a psychotic disorder, and delusions or hall ucinations are directly relevant to the behavior consti- tuting the offense. For diminished responsibility: \200 The accused should have evidently been suffering from an \200\230abnormality of mind \200 \231 (i.e. a mental disorder not severe enough to deem them \200\230insane \200\231, but o f suf \201 cient degree to substantially impair their ability to determine or control thei r actions; see criteria on b p.722). Diagnoses that may be relevant: any of the diagnoses l isted here for insanity, as well as: non-psychotic affective disorders; acute stress reacti ons, adjustment disorders, and post-traumatic stress disorder; personality disorders (not p rimary dissocial personality disorder in Scotland); sexual deviation (not in Scotland); mil d to moderate LD and pervasive developmental disorders (including autistic spectrum disorde rs). Other conditions that have been successful in gaining a diminished responsibility verd ict are premenstrual syndrome and \200\230battered spouse syndrome \200\231. 17_Semple_Chap17.indd 724 12/7/2012 3:49:51 PM 725 Chapter 18 Learning disability Introduction 726 Historical perspective 728 Classi \201 cation 730 Impairments, disabiliti es, and handicaps 732 Etiology 734 Establishing the cause 736 The process of assessment 738 Considering management choices 740 Treatment methods 742 Down \200\231s syndrome 744 Delet ions and duplication syndromes 746 Autosomal dominant syndromes 748 Autosomal recessive syn dromes 750 X-linked dominant syndromes 752 X-linked recessive syndromes 754 Sex chromosome disorders 755 Non-genetic causes of learning disability 756 Disorders of unknown etiology 7 57 Pervasive developmental disorders 758 Autism 760 Epilepsy and learning disability 762 Ps ychiatric comorbidity in LD 764 Behavioral disorders and \200\230challenging \200\231 beha vior 766 Management of behavioral disorders 768 Transition periods 770 Family issues 772 18_Semple_Chap18.indd 725 12/7/2012 3:52:11 PM CHAPTER 18 Learning disability 726 Introduction Patients with a learning disability (LD) have unique needs, suf \201 ciently dif- ferent from those of the general population as to require specialist psy- chiatric ser vices. The incidence of mental illness is approximately two to three times that of the gene ral population and illness often presents in a different manner. It is a complex subspecial ty, encompassing everything from molecular genetic diagnostic techniques to provision of ad equate social supports, and which requires an enquiring mind and a truly holistic approach to medicine. Psychiatrists in learning disability will be involved in the assessment and treatment of ac ute and chronic mental illness, challenging behavior, and pervasive developmental disorders , and will require a more detailed knowl- edge of how physical illness, epilepsy, sensory i mpairments, and environ- mental factors affect the presentation of mental disorders (see Bo x 18.1). While challenging, it can be a very rewarding specialty, where appropriate managem ent can dramatically improve quality of life for patients. The LD psychiatrist will work with children, adolescents, adults, the elderly and families, and carers in a variety of clinical settings, usually in col- laboration with a range of o ther professionals in a variety of disciplines: \200 Pediatricians, during childhood, but particularly at the time of establishing the cause of developmental delay. Clinical geneticists and genetic counselors, either in childhood or ad ulthood when looking both at the individual and the family for potential genetic causes. So cial work departments when setting up and reviewing appropriate packages of care, particula rly when a Mental Health Act or capacity/ incapacity legislative framework is in place. Psy chologists are often involved in both the assessment and subsequent management of patients with LD. They will often use mixed methods, drawing on behavioral, cognitive, and dynamic a pproaches. In some services music therapists and art therapists are involved in individual and group work. Speech and language therapists play an important role in the assessment and management of people with a learning disability and are vital members of the multidiscipli nary health team. Occupational therapists, physiotherapists, and dieticians all have partic ular roles in the learning disability team, more so than in general adult psychiatry, and a s such are often full-time members of the team. Family/carers are at the \200\230coal face \200\231 of care and it must always be remembered that they have often years of experience with their child/ ward. It is essential to engage the family/carers in the assessment and management. The LD psychiatrist will often act as a focal point in the collation and dis- semination of information, being a \200\230 \201 xed point \200\231 for the family/carers who may be s omewhat \200\230at sea \200\231 with the dizzying array of professionals involved in the c are of the child or adult with LD. 18_Semple_Chap18.indd 726 12/7/2012 3:52:11 PM INTRODUCTION 727 Box 18.1 The role of the LD psychiatrist \200 Establishing the reason for developmental delay in infants and young children (b p. 736). E stablishing the nature and extent of speci \201 c learning dif \201 culties and the state ment of special educational needs for children of school age. Assessing longer-term social care needs, particularly in advance of transitional stages (b p. 770). Assessing behavioral problems ( problems (b p. 764) in children or adults. Ensuring physical problems, sensory impairments, or other disabilities are not overlooked and facilitating access to general me dical services and other specialist assessments. b p. 766) or possible psychiatric 18_Semple_Chap18.indd 727 12/7/2012 3:52:11 PM CHAPTER 18 Learning disability 728 Historical perspective The Mental De \201 ciency Act (1913) and The Elementary Education ( Defective and Epileptic Children) Act (1914) were turning points in the management of those diagnosed as \200\230mentally defective \200\231 or \200\230feeble-minded \200\231 (by \200\230duly quali \201 ed \200\231 medical practitioners) in the UK, requiring local auth or- ities to provide suitable care in special institutions or the guardianship of families, and educational placements in special schools or classes. These \200\230segregation \200 \231 acts moved those with LD from home, asylum, or workhouse, to special institutions, wit h the aim of providing for their special needs and the hope of social treatments (through e ducation and training). The motivation of at least some of those who advocated institutional care may have been adm irable. Unfortunately the de \201 nition of mental handicap (de \201 ned as \200\230idio ts \200\231, \200\230imbeciles \200\231, and the \200\230feeble-minded \200\231) was rela ted to subjective measures, such as \200\230ability to care for oneself \200\231, rather t han objective measures, such as intelligence. This led to abuses, such as other \200\230de viant behaviors \200\231 (e.g. having an illegitimate child, habitual drunk- enness) being used as grounds for committal to an institution. In addi- tion the institutions became focu ses for contemporary social concerns, by scapegoating the \200\230feeble-minded \200\231 a s the cause of everything from social problems (e.g. poverty, alcoholism, unemployment, pro miscuity, illegiti- macy) to imperial, and even racial, decline. Progress was gradually made in the use of more objective assessment of \200\230defectives \200\231, but most medical authorities believed causation was inherited (a \200\230neuropa thic trait \200\231). This fed directly into prevalent eugenic notions of preventing \200 \230racial decline \200\231 by segregation, with physical stigmata (e.g. facial characteris tics) seen as \200\230proof \200\231 that appearance (especially \200\230racial charac- t eristics \200\231) and mental health were interrelated. Nowadays, such ideas seem simplisti c (like the practice of phrenology at the time), but the notion that the Caucasian races we re \200\230more civilized \200\231 had signi \201 cant in \202 uence at the beginning of the twentieth century. Some doctors even advocated com- pulsory sterilization \200\230to protect social health, but permit liberty \200\231. It would take decades, and two world wa rs, before social, political, and scienti \201 c pressure \201 nally dismantled these \201 rmly held ideas. Impetus for change came from growing concerns about the effects of large institutions, form s of treatment, and rights of the mentally handi- capped. In the 1960s, of \201 cial enqui ries found evidence of abuse, malprac- tice, and neglect. Alarm among social reformers abou t the conditions in institutions was fueled by Erving Goffman \200\231s Asylums. Efforts we re made to reduce stigma by replacing older labels with less pejorative terms (e.g. \200 \230mental subnormality \200\231, \200\230mental retardation \200\231, \200\230mental han dicap \200\231 for \200\230men- tal de \201 ciency \200\231; \200\230idiot \200\231, \200\230imbecile \200\231, \200\230trisomy 21 \200\231 or \200\230Down \200\231s syndrome \200\231 for \200\230mongolism \200\231; \200\230congenital hypothyroidism \200\231 for \200\230cretinism \200\231). In 1968, ICD-8 (WHO) classi \201 ed \200\230mental retardat ion \200\231 according to severity of intellectual impairment (by IQ assessment) and social factors. The 1970s and \200\23180s saw major policy changes, emphasizing integration with mainstream resources and education, away from institutions and to the community. Many peop le with LD moved from hospitals to purpose-built hostels or \200\230group homes \200\231. Understanding of the etiology of LD expanded from the 1950s onwards, with Lionel Penrose \200\231s Biology of mental defect in 1949, and the discovery 18_Semple_Chap18.indd 728 12/7/2012 3:52:11 PM HISTORICAL PERSPECTIVE 729 of the genetic basis of Down \200\231s syndrome by J r me Lejeune in 1959. By the 1970s m ost standard textbooks recognized multiple aetiologies (genetic and environmental), separat ing pre-, peri-, and postnatal causes. Karyotyping, identifying metabolic abnormalities, an d isolating infectious agents allowed for laboratory diagnoses, rather than reliance on cli nical observation. Pharmacological treatments of epilepsy, behavioral distur- bance, moveme nt disorders, and psychiatric comorbidity; dietary treat- ments of metabolic disturbances; behavioral and cognitive approaches; improved assessment/management of social/occupational functioning, communication problems, and educational needs have allowed rational management of LD. The last 20yrs have seen enormous changes in the way that people with learning disabilities are viewed and the way in which they are treated. The large institutions are largely gone, and indeed many of the small hospitals as well. The majority of patients live either in th eir own homes or in a small community placement with paid carers. Whilst this has undoubted bene \201 ts when compared to the large anonymous institutions, it has cre- ated an entir ely new set of challenges and problems. Some patients miss the social aspects of the group setting and are frustrated that the only peo- ple they have contact with are paid carers/su pport workers. The design of care provision has come a long way but there will always be a need to keep on improving. 18_Semple_Chap18.indd 729 12/7/2012 3:52:11 PM CHAPTER 18 Learning disability 730 Classi \201 cation The clinical terms used to refer to individuals with learning disabilit y have changed over the years as formerly neutral terms have acquired pejora- tive connotat ions and been replaced. In the UK at present the preferred term is \200\230learning disabi lity \200\231, which is used interchangeably with the inter- nationally agreed term \200 \230mental retardation \200\231 (used in ICD-10, DSM-IV, and the American Association of In tellectual and Developmental Disabilities [AAIDD] classi \201 cations). Both ICD-10 and DSM-IV also agree on the use of the terms mild, mod- erate, severe, and pro found to describe the degree of mental retardation, with arbitrary cut-offs varying only sl ightly (see Table 18.1): Table 18.1 Classi \201 cation IQ range for categories ICD-10 DSM-IV Mild 50 \200\22369 50 \200\22355 to 70 Moderate 35 \200\22349 35 \200\22340 to 50 \200\22355 Severe 20 \200\22334 20 \200\22325 to 35 \200\22340 Profound Below 20 Below 20 \200\22325 Both the DSM-IV and AAIDD (formerly AAMR) criteria are multi-axial. In DSM-IV, mental retar dation is classi \201 ed in Axis II, whereas the speci \201 c learning dif \201 culties and pervasive developmental disorders are classi \201 ed in Axis I. ICD-10 guidelines ICD-10 de \201 nes \200\230mental retardation \200\231 as \200\230a co ndition of arrested or incom- plete development of the mind, characterized by impairments o f skills manifested in the developmental period, i.e. cognitive, language, motor and social abilities \200\231. Mild Delay in acquiring speech, but eventual ability to use everyday speech; generally able to independently self-care; main problems in academic set- tings (e.g. reading, writing); potentially capable of working; variable degree of emotional and social immaturity; problem s more like the normal popu- lation. Minority with clear organic etiology, variable associa ted problems (autism, developmental disorders, epilepsy, conduct disorders, neurologi- cal and physical disabilities). Moderate Delay in acquiring speech, with ultimate de \201 cits in use of lan- guage and co mprehension; few acquire numeracy and literacy; occasionally capable of simple supervised w ork. Majority have an identi \201 able organic etiology, a substantial minority have assoc iated problems (autism, devel- opmental disorders, epilepsy, conduct disorders, neurologica l and physical disabilities). Severe Similar to moderate, but with lower levels of achievement of visuospatial, language, or social skills. Marked motor impairment and asso- ciated de \201 cits. 18_Semple_Chap18.indd 730 12/7/2012 3:52:11 PM CLASSIFICATION 731 Profound Comprehension and use of language very limited; basic skills limited at best; orga nic etiology clear in most cases; severe neurological and physical disabilities affecting m obility common; associated problems (atypical autism, pervasive developmental disorders, ep ilepsy, visual and hearing impairment) more common. DSM-IV additional features \200 Onset before age 18 (ICD-10 only states, \200\230during the developmental period \200\231) . In both cases, this discriminates LD from acquired brain injury. De \201 cits/impairment s in present adaptive functioning in at least 2 areas from: \200 \200 \200 \200 \200 \200 \200 \200 \200 \200 \200 Communication Self-care Home living Social/interpersonal skills Use of community resources Self-direction Functional academic skills Work Leisure Health Safety. \200\230Subcultural \200\231 LD Although the concept of \200\230psychosocial \200\231 cau sation (due to physical and emotional neglect) is controversial, it is true to say that mil d or border- line intellectual impairment is more common in families of lower socio- econom ic status. This is best viewed as a cultural norm, and individuals generally have no, or on ly minor, impairments in adaptive functioning (i.e. lack of disability or handicap \200\224 see b p. 732). Generally the intellectual ability of family members is also in the borderli ne range, dysmorphic char- acteristics are less likely, and other impairments or disabiliti es are unusual. This is in contrast to biological causation where impairments are more sign i \201 cant, there is no difference in socio-economic status, parents and sibling are usua lly of normal intelligence, and dysmorphic features are more common. 18_Semple_Chap18.indd 731 12/7/2012 3:52:12 PM CHAPTER 18 Learning disability 732 Impairments, disabilities, and handicaps The terms \200\230learning disability \200\231 an d \200\230mental retardation \200\231 are sometimes inaccurately (and confusingly) used as diagnostic terms. In fact, they both describe a constellation of impairments with conseque nt disability and hence handicap, the etiology of which may be known (e.g. Down \200\231s s yn- drome) or unknown (e.g. childhood disintegrative disorder). The WHO1 has proposed a sys tem of classi \201 cation, which helps to de \201 ne needs and to direct interventions, w ithout making speci \201 c aetiological assumptions: Impairment \200 Any loss or abnormality of psychological, physiological, or anatomical structure or functio n: \200 \200 A deviation from some norm in an individual \200\231s biomedical status. Characterized by l osses or abnormalities that may be temporary or permanent. Includes anomalies, defects, or losses of a limb, organ, tissue, or other structure of the body, or defects in a functional system or mechanism of the body, including the systems of mental functioning. Is not conti ngent upon etiology. Disability \200 Any restriction or lack (resulting from impairment) of ability to perform an activity in th e manner or within the range considered normal for a human being: \200 Concerned with compound or integrated activities expected of the person or of the body as a whole (e.g. tasks, skills, and behaviors). Includes excesses or de \201 ciencies of custo marily expected activities and behavior, which may be temporary or permanent, reversible or irreversible, and progressive or regressive. The process through which a functional limita tion expresses itself as a reality in everyday life. Handicap \200 A disadvantage for a given individual, resulting from impairment or disability that limits or prevents the ful \201 lment of a role that is normal for that individual: \200 Is relative to other people and represents discordance between the individual \200\231s per formance, or status, and the expectations of their social/cultural group. Places value on t his departure from a structural, functional, or performance norm by the individual or his/h er peers in their cultural context. A social phenomenon, representing the social and enviro nmental consequences for the individual stemming from his/her impairment or disability. 1 World Health Organization (1980) International classi \201 cation of impairments, disabi lities, and handi- caps, 10th edn. Geneva: World Health Organization. 18_Semple_Chap18.indd 732 12/7/2012 3:52:12 PM This page intentionally left blank CHAPTER 18 Learning disability 734 Etiology A speci \201 c cause for LD can be identi \201 ed in about 80% of severe and 50% of mild cases. Modern classi \201 cations of aetiological factors are based on timing of the causative event: see Table 18.2): about 50 \200\22370% of cases will be attributable to a prenatal factor, 10 \200\22320% to a perinatal factor, and 5 \200\22310% to a postnatal factor. The identi \201 cation of aetiological factors is important because it allows for discussi on of the risk of recurrence in future pregnancies. A known cause can allow for discussion of likely disabilities, possible cognitive impairments, and prognosis. This can be useful f or planning supports/serv- ices, access to education, and optimizing environmental factors. Genetic causes \200 \200 \200 \200 \200 \200 b p. 744) Autosomal chromosome disorders (e.g. Down \200\231s syndrome, Sex chromosome disorders (see Deletions and duplications (see Autosomal dominant ( b p. 754) and dominant (b p. 752) con ditions X-linked recessive ( Presumed polygenic conditions (e.g. neural tube defects, perva sive developmental disorders) Mitochondrial disorders, maternally inherited (e.g. myoclonic epilepsy with ragged red \201 bres [MERRF]). b p. 755) b p. 746) b p. 748) and recessive (b p. 750) conditions CNS malformations of unknown etiology About 60% of all CNS malformations do not have a know n genetic or exogenous cause. The types of malformation seen indicate the timing of the cau sative event, but not its nature (see Table 18.2). External prenatal factors (see b p. 756) Infection; exposure to medica- tion, alcohol, drugs, and toxins; maternal illness (diabete s, hypothyroidism, hypertension, malnutrition) and gestational disorders. These factors are particularly damaging in the early stages of fetal development during blas- togenesis or o rganogenesis. Perinatal factors Occurring around the time of delivery. Neonatal sep- ticaemia; pneumonia; meningitis/encephalitis; other congenital infections; problems at delivery (asphyxia, intr acranial hemorrhage, birth injury); other newborn complications (respiratory distress, hype rbilirubinaemia, hypoglycaemia). Postnatal factors Occurring in the \201 rst years of life. CNS infections, vas- cular acc idents, tumors; causes of hypoxic brain injury (e.g. submersion); head injury (e.g. RTAs, c hild abuse); exposure to toxic agents; psychosocial environment (i.e. deprivation). Other d isorders of unknown etiology (see b p. 757) e.g. cerebral palsies, epilepsy, autistic spect rum disorders, childhood disintegrative disorders. 18_Semple_Chap18.indd 734 12/7/2012 3:52:12 PM etiology 735 Table 18.2 Types of malformation and the timing of the causative event Timing (in gestation) CNS event Malformation 3 \200\2237wks Dorsal induction Anencephaly, encephalocoele, meningomyelocele, other neural tube closure defects 5 \200\2236wks Ventral induction Prosencephalies and other faciotelencephalic defects 2 \200\2234mths Neuronal proliferation Microcephaly or macrocephaly 3 \200\2235mths Neuronal migration Gyrus anomalies and heterotopias 6 mths (to 1st year of life) Neuronal organization Myelination. Disturbed connectivity (dendrite/ synapse formation). Disturbed proliferation of oligodendrocytes and myelin sheets 18_Semple_Chap18.indd 735 12/7/2012 3:52:13 PM CHAPTER 18 Learning disability 736 Establishing the cause This requires a comprehensive history from the parents, examination of antenatal and perinatal records, and physical examination of the child. Factors in the history \200 Family history previous pregnancies (including abortions, stillbirths). Wider family: any h istory of LD; speci \201 c cognitive impairments; congenital abnormalities; neurological o r psychiatric disorders. Gestational history infections; exposure to medication, drug and a lcohol use, toxins, radiation; chronic medical conditions; history of pre-eclampsia, abnorm al intrauterine growth, or fetal movements. Birth of child Gestational age; whether multipl e pregnancy (birth order); duration of labor; mode of delivery; any complications; any plac ental abnormalities. Examination of birth records (Apgar scores, weight, length, head circu mference). Neonatal history infections, hypoglycaemia, hyperbilirubinaemia), baby checks (p hysical examination, Guthrie test). Childhood history sleeping pattern, early developmental milestones. History of childhood illnesses (esp. CNS infections or seizures, metabolic/end ocrine disorders) and accidents. General systemic enquiry. Parents: ages; consanguinity; medical history; any General maternal health and nutrition; maternal Need for special care (respiratory distress, Weight gain, growth pattern, feeding pattern, Physical examination \200 Look for evidence of any dysmorphic features and note whether these are seen in close relat ives (e.g. skin \200\224pigmentation, dermatoglyphs; facial features; musculoskeletal abnor malities). Full physical examination of all systems including neurological examination for localizing signs. If suggested by the history/examination, ophthalmic and audiology examina tions should be arranged. Investigations \200 Standard tests will include FBC, U&Es, LFTs, TFTs, glucose, infection screening (blood and urine), and serology (ToRCH \200\224toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus; HIV). Where dysmorphic features are evident, or physical signs indicate, arrange X- rays of skull, vertebrae, chest, abdomen, hands, feet, and long bones; cardiac/abdominal ul trasound. If metabolic disorder is suspected (e.g. progressive course), arrange screening t ests of blood and urine. If genetic disorder suspected arrange for karyotyping (G-banding, high resolution banding, \202 uorescence in situ hybridization \200\224FISH) or other mor e speci \201 c genetic tests (e.g. FraX DNA testing). Other more detailed investigations m ay include neurophysiological tests (EEG, evoked potentials), neuroimaging (cranial ultraso und, CT/ MRI, functional imaging), (neuro)pathological examination ( \201 broblast culture ; biopsies \200\224muscle, skin, rectum). 18_Semple_Chap18.indd 736 12/7/2012 3:52:13 PM This page intentionally left blank CHAPTER 18 Learning disability 738 The process of assessment When a person with LD presents to services because of a particula r prob- lem (e.g. \200\230challenging behavior \200\231 or mood disturbance), the task for the clinician is to determine the underlying cause, and to consider any pre- disposing, pr ecipitating, and perpetuating factors. Causation will often be multifactorial, and because of this a structured assessment approach is best. Some aspects of assessment may be well do cumented (e.g. the aeti- ology of the LD), particularly when the patient is an adult. Any d iagnostic formulation should always take note of previous assessments and highlight what fu rther assessments may be helpful. It is always useful to consider any protective factors wh ich can potentially be harnessed or used to aid improvement. Assessment of the nature and severity of the LD \200 Intellectual impairment Wechsler scales). There are often important differences in subscale scores (e.g. verbal vs. performance IQ). Severity of LD Disabilities Behavior Scales, Amer ican Adaptive Behavior Scales, Hampshire Assessment for Living with Others [HALO]). Handica p Experiences checklist). Etiology of LD Assessed using standardized tests (e.g. \200 Using ICD-10 or DSM-IV criteria (see b p. 730). Assessments of functioning (e.g. Vineland A daptive Assessment of quality of life and life experiences (e.g. Life See Establishing the cause b p. 736. Assessment of the current problem \200 Full physical examination which the patient may be unable to communicate. Mental state exam ination Mental illness (which may go unrecognized and untreated) can be a causative or comp licating factor in many presentations. Environmental and social factors In addition to asse ssment of the patient, attention should also be focused on the patient \200\231s living sit uation, relationships and current stressors, noting particularly any recent changes. This may identify undiagnosed problems, See Psychiatric comorbidity in LD b p. 764. Current support network Assessment will involve not only talking to the patient, but also g athering information from previous documentation (including previous diagnoses and current treatments), talking to the family and to any carers, and to any other support services or education services involved. The aim is to view the current problem in the light of past ex periences, known problems, and current situational factors. A longitudinal approach is advi sed (i.e. does the current presentation re \202 ect a recurrent problem, is it part of pro gressive functional decline, or does it represent a new, unidenti \201 ed problem or unmet need?). It is useful to document the current supports received by the patient, and any imp ortant contacts for future reference. 18_Semple_Chap18.indd 738 12/7/2012 3:52:13 PM THE PROCESS OF ASSESSMENT 739 Needs assessment Should it be the case that the person \200\231s needs have changed, then t here may be a statutory responsibility to undertake a formal \200\230needs assessment \200 \231, taking into account the wishes of the person (if they have capacity to make the kinds of decisions required) and others involved in care provision. This includes social care, e ducational, and health care needs. Increasingly, more joint work is being done between psychiatry of learn- ing disability dep artments and social work departments. As a result, it is likely that you will be more invol ved in discussions and assessments of patients with a view to deciding on what their overal l care needs are, in addition to their particular psychiatric needs. Naturally this will be in a multidisciplinary team but will include consideration of: \200 Level of supervision by nursing/care staff, e.g. day and night staf \201 ng ratios, sleepi ng vs. waking night cover, same building or next door building. Layout of building. Locatio n of building. Compatibility of different patients if being considered for group accommodat ion. \200 \200 18_Semple_Chap18.indd 739 12/7/2012 3:52:13 PM CHAPTER 18 Learning disability 740 Considering management choices The therapeutic environment Provision of care and support sh ould always be within an appropriate set- ting. Support may be: general (care provided by u sual carers, schools, community teams) and/or speci \201 c (addressing particular needs, e .g. special education, parental support groups, physical or psychiatric prob- lems, maladap tive behaviors). Although, in general, every effort will be made to sustain a \200\230norm al \200\231 environment (remaining at home, integration into mainstream schools, use of loc al community resources), often more specialized environments are necessary (see Admission t o specialist environments). Overcoming communication dif \201 culties \200 Use of aids to overcome/improve sensory de \201 cits (e.g. hearing aids, glasses). Strateg ies for improving communication \200\224picture exchange communication system (PECS); symbo l dictionaries; Makaton; sign language. Because of often unique communication styles it is important that family/carers who know the patient are available to assist/improve communica tion and that their expertise is shared amongst new staff. Factors in \202 uencing management choices \200 \200 \200 \200 The nature of the problem (e.g. biological, psychological, social). The degree and etiology of the LD. Comorbid physical conditions (which may restrict medication choices). Situation al factors (e.g. practicalities of instituting various treatment options, supports, ability to monitor progress). Admission to specialist environments Sometimes disabilities or problems may be too severe o r too complex to be managed with standard community resources because: \200 The degree of LD or the speci \201 c cognitive impairments requires a well-structured, pre dictable environment that cannot be provided elsewhere. The degree of physical impairment r equires more intensive specialist nursing or a safer environment where medical care is clos e at hand (e.g. severe treatment-resistant epilepsy). The severity of behavioral problems p rohibits management at home (e.g. abnormally aggressive or disinhibited behavior which cons titutes a serious risk of harm to the patient or to others). The person requires treatment for a comorbid psychiatric disorder, which has failed to respond to initial treatment. Other reasons for admission may include: \200 Respite placements to allow individuals and their families some relief from the intensity o f long-term care. Assessment of complex problems \200\224to disentangle environmental from illness factors, or where treatment requires close monitoring. 18_Semple_Chap18.indd 740 12/7/2012 3:52:13 PM CONSIDERING MANAGEMENT CHOICES 741 \200\230Crisis \200\231 admissions due to an acute breakdown of usual supports. Cautionary notes \200 Attributing treatment success to a particular intervention may miss the real reason for imp rovement, e.g. return of familiar carer, more structured environment (if admitted to specia list center), or treatment effects on an undiagnosed primary condition (e.g. anticonvulsant used for aggressive behavior may actually be treating underlying epilepsy). Many condition s may run mistaken conclusions about effectiveness of an intervention, which only become cl ear when symptoms return despite treatment. Improvement (or worsening) of symptoms may re \202 ect maturational processes or, conversely, further pathological degeneration. Because of the wide variation in etiology (genetic, environmental, psychological, social) and the c omplexity (and variable degree) of cognitive impairments, most trials of treatment are by n ature empirical. Most management plans will inevitably be individually tailored and the cur rent evidence base for many treatment modalities is limited. relapsing \200\223remitting courses, leading to normal 18_Semple_Chap18.indd 741 12/7/2012 3:52:13 PM CHAPTER 18 Learning disability 742 Treatment methods Behavioral treatments May be used to help teach basic skills (e.g. feedin g, dressing, toileting), establish normal behavior patterns (e.g. sleep), or more complex s kills (e.g. social skills, relaxation techniques, assertiveness training). Behavioral techn iques may also be used to alter maladaptive patterns of behavior (e.g. inappropriate sexual behavior, pica, phobias). Pharmacological treatments Cautions \200 Comorbid physical disorders (e.g. epilepsy, constipation, cerebral palsy) increase the need to closely monitor adverse effects. Atypical responses, such as increased (or reduced) sen sitivity and \200\230paradoxical \200\231 reactions, are more common, hence low doses and gradual increases in medication are advisable. The evidence base for many drug treatments i s lacking and many claims for ef \201 cacy are at best based on small, open, uncontrolled trials. Antipsychotics For the treatment of comorbid psychiatric disorders (e.g. schizophrenia and related psychosis) and acute behavioral disturbance. May also be effective in managing auti stic spectrum disorders, self-injury, social with- drawal, ADHD, and tic disorders. Antidepressants Effective for the treatment of depression, OCD, and other anxiety disor- de rs. They have also been used in the management of violence, self-injury, \200\230non-speci \201 c \200\231 distress, and other compulsive behaviors. Anticonvulsants There is some evidence for the use of anticonvulsants in the treatment of e pisodic dyscontrol (e.g. carbamazepine), but their effectiveness may be due to better contr ol of underlying epilepsy. Lithium Aside from the treatment of bipolar affective disorder and augmenta- tion of antide pressant therapy, lithium may have some utility in reducing aggressive outbursts. -Blocke rs May be useful in conditions of heightened autonomic arousal (e.g. anxiety disorders), wh ich may be at the root of aggressive behavioral disturbance. Stimulants (e.g. methylphenidate) For the treatment of ADHD, see b p. 628. Opiate antagonis ts (e.g. naltrexone) May be effective in the treatment of repetitive self-injury. 18_Semple_Chap18.indd 742 12/7/2012 3:52:13 PM TREATMENT METHODS 743 Anti-libidinal drugs (e.g. cyproterone acetate and medroxyprogesterone, which reduce testos terone levels) Used in the treatment of sexual offending (see b p. 684).