Other disorders with \200\230fragile \200\231 sites Two other fragile sites have been foun d on the X chromosome. The origi- nal \200\230fragile X \200\231 site has hence been desig nated \200\230FRAX A \200\231. FRAX E, caused by FMR-2 mutation is also associated with mi ld LD, with an incidence of 1:100 000, and 200 \200\2231000 triplet repeats. FRAX F has not (yet) been associated with any disorder. Another fragile site has been located on chromoso me 16 (FRA 16) associated with a large GCC triplet expansion \200\224but no spe- ci \201 c clinical disorder. Rett \200\231s syndrome A pervasive developmental disorder (see b p. 758) almost exclusivel y affecting females with an incidence of 1:10 000 \200\22420 000. Initially described by Au strian physican Andreas Rett in 1966,2 but only fully recognized after a second paper in 19 83.3 Clinical features Initially normal development followed by 4 stages: (1) early onset/develo pmental arrest, (2) rapid destructive/regressive, (3) plateau (or pseudo-stationary) and (4 ) late motor deterioration: \200 Stage 1 Onset usually 6 \200\22318mths. May be delays in gross motor skills. Infants may sh ow d eye contact and d interest in toys. The typically described hand-wringing and d rate o f head growth may also be apparent. 18_Semple_Chap18.indd 752 12/7/2012 3:52:14 PM X-LINKED DOMINANT SYNDROMES 753 Stage 2 movements and spoken language are lost. Stereotypical hand movements including wrin ging, washing, clapping, or tapping are often seen. Emergence of some autistic symptoms and a worsening gait may be seen. Stage 3 Seizures and motor problems more prominent. Some imp rovement in behavior, with more interest in others and surroundings and some improvement in communication skills. Stage 4 This stage can last for decades and is typi \201 ed by grad ual worsening in mobility, with scoliosis, spasticity, and muscle weakness. Onset usually between 1 and 4yrs. Purposeful hand Onset usually before age 10, and can last for most of life. Etiology Mutations in the MECP2 gene on the X chromosome are present in the majority of gir ls with Rett \200\231s syndrome. Mutations on the CDKL5 gene have also been implicated in a variant of Rett \200\231s with notably early- onset of seizures. Prognosis The prognosis i s poor with continued motor deterioration and usually severe learning disability. Aicardi syndrome Rare (only 200 reported cases \200\224all female); dysgenesis of the corpu s callosum and cerebrum, with severe LD; prognosis poor (often death in infancy). Clinical features Microcephaly, facial asymmetry, low-set ears, eye lesions (chorioretinal lacunae), hypotonia, scoliosis, epilepsy. Behavioral problems 25% \200\224aggression, lack of commun ication, tiredness/sleep prob- lems, self-injurious behavior. 1 Verkerk AJ, Pieretti M, Sutcliffe JS, et al. (1991) Identi \201 cation of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length vari ation in fragile X syndrome. Cell 65: 905 \200\22314. 2 Rett A (1966) Ueber ein eigenartige s hirnatrophisches Syndrom bei Hyperammoniamie in Kindesalter. Wien Med Wschr 116: 723 \200 \2238. 3 Hagberg B, Aicardi J, Dias K, et al. (1983) A progressive syndrome of autism, deme ntia, ataxia, and loss of purposeful hand use in girls: Rett \200\231s syndrome: report of 35 cases. Ann Neurol 14: 471 \200\2239. 18_Semple_Chap18.indd 753 12/7/2012 3:52:14 PM CHAPTER 18 Learning disability 754 X-linked recessive syndromes These include other lysosomal storage diseases, e.g. mucopolys accaride storage \200\224Hunter syndrome; trihexosylceramide storage \200\224Fabry disease and other extremely rare conditions such as Lesch \200\223Nyhan syndrome and oculocerebrore nal syndrome of Lowe. Hunter syndrome Caused by iduronate sulphatase de \201 ciency (mapped to Xq27-28); inciden ce 1:132 000 \200\22328 0000 (more common in male Ashkenazi Jews: 1:34 000). Symptoms are c aused by build-up of glycosaminoglycans (GAG) in a variety of body tissues. Only 20% have c omplete depletion of iduronate sulphatase and two subtypes are recognized: Type A Progressi ve LD and physical disability, with death before age 15yrs. Type B Milder form, with minima l intellectual impairment and better prognosis. Clinical features Short stature, distinctiv e course, facies \200\230gargoylism \200\231, prominent forehead, enlarged tongue, \202 attened bridge of nose, enlarged head, degenerative hip disease, joint stiffness, claw hand , chest deformities (pes cavus or excavatum), cervical cord compression, hepatosplenomegaly , hearing loss, breathing obstruction, developmental delay, eye defects (retinitis pigmento sa, papilloedema, hypertrichosis), umbilical/inguinal hernia. Lesch \200\223Nyhan syndrome An extremely rare X-linked recessive condition, due to a mutat ion in the HPRT gene (hypoxanthinephosphoribosyl transferase) on the short arm of chromosom e Xq26-27, with a nearly total loss of the enzyme leading to hyperuricaemia. Prognosis is p oor and most affected individuals die in early adulthood. Clinical features Children appear healthy at birth, dystonias become apparent around 3 \200\2234mths with delayed developmen tal milestones, later there is development of spasticity, choreoform movements and transien t hemiparesis (which may be misdiagnosed as cerebral palsy), variable degree of LD (usually severe), microcephaly is common, 750% develop epilepsy. Behavioral problems Around age 2yr s (sometimes not until adolescence) self- mutilating behaviors may be seen (biting of lips, inside of mouth, \201 ngers). Sometimes there is an episodic pattern, and some may show a reduction in frequency and severity after age 10yrs. May be associated with verbal and ph ysical aggression. There is no clear cause for this behavior \200\224 CNS \201 ndings inc lude reduction in dopamine in the basal ganglia and at synaptic terminals (but not in the c ell bodies of the substantia nigra), with other monoaminergic systems apparently intact. Ma nagement Even treating hyperuricaemia does not appear to reduce behavioral problems; howeve r, there is some evidence for use of SSRIs. Oculocerebrorenal syndrome of Lowe Very rare X-linked recessive condition (Xq24-26); incide nce 1:200 000. Clinical features Moderate \200\223severe LD (up to 25% have normal IQ), sho rt stature, hypotonia, epilepsy (730%), eye problems (e.g. congenital cataracts), renal pro blems (tubular dysfunction). Behavioral problems Temper tantrums, hand-waving movements, se lf-injury (770% \200\224esp. in early adolescence). 18_Semple_Chap18.indd 754 12/7/2012 3:52:14 PM SEX CHROMOSOME DISORDERS 755 Sex chromosome disorders Turner \200\231s syndrome Sex chromosome monosomy; karyotype 45XO, female phenotype; generally normal IQ with LD rare though there may be speci \201 c de \201 cits of visuospatial learning. Trisomy X Sex chromosome trisomy; karyotype 47, XXX; 1:1000 female births. Clinical feature s Slight increase in height, 770% have learning dis- order (usually mild), some evidence of reduced fertility (children have normal karyotypes), possibly increased incidence of schiz ophrenia. Klinefelter \200\231s syndrome Sex chromosome trisomy; karyotype 47, XXY; 1:1000 male birth s (50% due to paternal and 50% maternal non-dysjunc- tion). Clinical features Variable degr ee of development of secondary sexual characteristics with hypogonadism, scant facial hair (90%), gynaecomastia (50%). Taller than average (74cm), asthenic body build, median IQ 790 with skewed distribution \200\224most in 60 \200\22370 range, uncertain association with ps y- chiatric disorders. XYY male Sex chromosome trisomy; karyotype 47, XYY; 1:1000 male births. Clinical features C ontroversial suggestion of higher incidence in prison populations, IQ may be slightly lower than average, behavioral problems commonly seen. 18_Semple_Chap18.indd 755 12/7/2012 3:52:14 PM CHAPTER 18 Learning disability 756 Non-genetic causes of learning disability Fetal alcohol syndrome (FAS) One of the major cau ses of LD, incidence 0.2 \200\2233 per 1000 live births. 10 \200\22320% of cases of mild LD may be caused by maternal alcohol use. Risk increased by: overall alcohol consumption, bin ging, other drug use (including smoking), genetic susceptibility, and low socio-economic st atus. May be due to the effects of alcohol on NMDA receptors, which may alter cell prolifer ation. Clinical features Postnatal signs of alcohol with- drawal (irritability, hypotonia, tremors, seizures); microcephaly; abnormal facial features \200\224small eye \201 ssures, epicanthic folds, short palpebral \201 ssure, small maxillae and mandibles, underdevelop ed philtrum, cleft palate, thin upper lip; growth de \201 cits \200\224small overall lengt h, joint deformities; CNS features \200\224high incidence of mild LD, associated behavioral problems (hyperactivity, sleep problems), optic nerve hypoplasia (poor visual acu- ity), h earing loss, receptive and expressive language de \201 cits; other physical abnormalities \200\224ASD, VSD, renal hypoplasia, bladder diverticuli. Iodine de \201 ciency disease Worldwide the most common cause of severe intellectual impai rment and largely forgotten in the West by virtue of good diet and iodized table salt. Impo rtant cause of LD, particularly because of its treatability. Mainly found in large areas of Asia, Africa, and South America. Congenital hypothyroidism A treatable cause of mental and growth retardation due to loss of thy- roid function; incidence 1:3500 \200\2234000, but now screened for neonatally and tre ated early with levothyroxine. If untreated, leads to typical clini- cal picture of letharg y, dif \201 culty feeding, constipation, macroglossia, and umbilical hernia. Secondary to other toxins E.g. cocaine, lead, bilirubin, coumarin anticoagulants, phenytoin . Secondary to infective agents ToRCH, syphilis (treponema pallidum), HIV, and other causes o f menin- gitis and encephalitis. Hypoxic damage Secondary to placental insuf \201 ciency, pre-eclampsia, birth trauma, seve re prematurity, \200\230small for dates \200\231 babies (fetal growth retardation), or mul - tiple pregnancy. CNS and skull developmental abnormalities Micro- and macrocephalies, spina bi \201 da, hyd rocephalus, craniostenosis, callosal agenesis, lissencephalies, holoprosencephalies. 18_Semple_Chap18.indd 756 12/7/2012 3:52:14 PM DISORDERS OF UNKNOWN etiology 757 Disorders of unknown etiology This includes a broad range of disorders associated with LD, but for which a clear etiology is as yet undetermined, e.g. cerebral palsies, epilepsy, aut istic spectrum disorders (see b p. 760), childhood disintegrative dis- orders, and other cl early de \201 ned syndromes with a suspected but not yet proved genetic basis (e.g. Cornel ia de Lange). Disintegrative disorder Clinical features Characterized by normal development until the age of 74yrs, followed by profound regression with disintegration of behavior, loss of acquire d language and other skills, impaired social relationships, and stereo- typies. Etiology Un known, but may follow minor illness or viral encephalitis (e.g. measles). Prognosis Poor, w ith development of severe LD. Cornelia de Lange syndrome (Brachmann de Lange syndrome) Usually IQ is below 60 (range 30 \200\22386), prevalence 1:50 000 \200\223100 000, mode of inheritance unknown (possibly aut osomal dominant). Clinical features Hypertrichosis (hirsutism, synophrys, long eyelashes), facial features (depressed nasal bridge, eye abnormalities, prominent philtrum, thin lips, downturned mouth, anteverted nostrils, bluish tinge around eyes/nose/ mouth, widely spaced teeth, high-arched palate, low-set ears, micro- gnathia, short neck), limb deformities (esp . upper limbs), cryptorchidism/ hypoplastic genitals (males), small umbilicus, low-pitched cry, small nip- ples. Associated with GI problems, congenital heart defects, visual and hea ring problems, skin problems, epilepsy, and death in infancy. Behavioral problems Expressive language de \201 cits, feeding dif \201 culties, sleep dis turbance, self-injury, temper tantrums, mood disorders, and autis- tic features. 18_Semple_Chap18.indd 757 12/7/2012 3:52:14 PM CHAPTER 18 Learning disability 758 Pervasive developmental disorders Pervasive developmental disorders (PDDs) are a group of l ifelong devel- opmental disorders characterized by a triad of: abnormal reciprocal social i nteraction; communication and language impairment; and a restricted, stereotyped, and repet itive repertoire of interests and activities. ICD-10 categorizes PDDs as follows: \200 \200 \200 \200 \200 b p. 760) Autism and atypical autism ( Rett \200\231s syndrome Childhood disintegrative disorder Aspe rger \200\231s syndrome Pervasive developmental disorder not otherwise speci \201 ed (PDD- NOS). Patients with PDD show either a lack of normal development of skills or the loss of already acquired skills. There is a gender bias with male > female predominance in all syndromes e xcept Rett \200\231s syndrome (female predominance). Prevalence of PDD ranges from 10 \200 \22320 cases per 10 000 individuals. Asperger \200\231s syndrome (AS)1 Essence A syndrome \201 rst described by Hans Asperger in 1944, but only eponymously named in 1981 by Lorna Wing. Described by Baron-Cohen as \200\230The extreme male brain \200\231, with \200\230mind-blindness \200\231. Characteriz ed by severe persistent impairment in reciprocal social interactions, repetitive behav- iou r patterns, and restricted interests. IQ and language are normal or, in some cases, superio r. Children with AS may have more striking autistic features before age 5, but later develo p \200\230normally \200\231 in most spheres except- ing social behavior. Social de \201 c its commonly manifest in adolescence or early adulthood when the individual experiences dif \201 culty with intimate relationships. Psychiatric comorbidity is high with depression m ost com- mon. Bipolar affective disorder and schizophrenia are more common than in the gene ral population. Mild motor clumsiness (ICD-10) and a family history of autism may be present. Epidemiology Male predominance. Prevalence may be as high as 1 in 300 as AS is almost certa inly under-recognized. \200\230Autistic spectrum \200\231 There is some evidence that AS forms a spectrum with au tism and high-functioning autism in terms of etiology, pathology, and clinical presentation . Rett \200\231s syndrome (RS) \200\224see b p. 752 Childhood disintegrative disorder (CDD) 2 Rare, occurring in fewer than 5 in 10 000 children. Male predominance. There is normal de velopment for 2 \200\2233yrs, followed by a loss of acquired motor, language, and social sk ills between ages 3 and 4yrs. Stereotypies and compulsions are common. Cause is unknown and prognosis is poor. 18_Semple_Chap18.indd 758 12/7/2012 3:52:14 PM PERVASIVE DEVELOPMENTAL DISORDERS 759 PDD-NOS Also termed \200\230atypical autism \200\231, PDD-NOS is relatively common and enc om- passes subthreshold cases where there are impairments of social interac- tion, communic ation, and/or stereotyped behavior patterns or interest, but where full criteria for other PDDs are not met. 1 Blasic JC (2008) Pervasive developmental disorder: Asperger syndrome. M http://www.emedic ine. com 2 Bernstein BE (2007) Pervasive developmental disorder: childhood disintegrative d isorder. M http:// www.emedicine.com 18_Semple_Chap18.indd 759 12/7/2012 3:52:14 PM CHAPTER 18 Learning disability 760 Autism1 Autism was \201 rst described by Maudsley in 1867 and named \200\230infantile au tism \200\231 by Leo Kanner in 1943. It is a syndrome that has engendered con- troversy in terms of its de \201 nition, relationship to other syndromes (e.g. schizophrenia), and eti ology. Autism is characterized by the same triad of symptoms (see b p. 758) as the core sym ptoms of PDD: abnormal reciprocal social interaction; communication and language impairment ; and a restricted, stereotyped, and repetitive repertoire of interests and activities (see Box 18.2). Eighty per cent of patients with autism have mild to moderate LD. The remaining 20% with no rmal IQ are classi \201 ed as either high-functioning autism (with language dif \201 cult ies) or Asperger \200\231s syndrome (with nor- mal language). Note: this last point is cont roversial and many would con- sider AS not to be classi \201 ed as a form of autism. In ge neral terms, 1 \200\2232% of those with autism have a \200\230normal \200\231 life; 5 \200 \22320% have a \200\230borderline \200\231 progno- sis (i.e. varying degrees of independen ce); but 70% are totally dependent upon support. Epidemiology The onset of symptoms is typically before age 3. Male: female ratio is 3 \200 \2234:1. Prevalence is 5 \200\22310 per 1000 individuals. Etiology The cause is unknown, but a number of hypotheses exist: genetic (in Down \200\231s syndrome and fragile X); obstetric complications; toxic agents; pre/postnatal infections ( with maternal rubella); autoimmune (anecdotal MMR \200\224not proven); association with neu rological disorders (e.g. tuberous sclerosis). Pathophysiology MRI: some have i brain size; i lateral and 4th ventricles; frontal lobe and cerebellar abnormalities. Pathology: abnormal Purkinje cells in cerebellar vermis; abnormal limbic architecture. Bioc hemistry: one-third have i serum 5-HT; some have i B-endorphin immunoreactivity. Clinical features \200 Abnormal social relatedness: eye contact; impaired mentation; failure to develop peer relat ionships; reduced interest in shared enjoyment; lack of social or emotional reciprocity and empathy; attachment to unusual objects. Abnormal communication or play: dif \201 culty in initiating or sustaining conversation; stereotyped and repetitive (or idiosyncratic) langu age; mixing of pronouns; lack of developmentally appropriate fantasy, symbolic, or social p lay. Restricted interests or activities: encompassing preoccupations and interests; adheren ce to non-functional routines or rituals; resistance to change; stereotypies and motor mann erisms (e.g. hand or \201 nger \202 apping or body rocking); preoccupation with parts o f objects. Neurological features: abnormal gaze monitoring; i ambidexterity. impaired non-verbal behavior; poor delay or lack of spoken language; seizures; motor tics; i head circumference; 18_Semple_Chap18.indd 760 12/7/2012 3:52:14 PM AUTISM 761 Physiological features: (e.g. to bright lights, loud noise, rough textures); absence of typ ical response to pain or injury; abnormal temperature regulation; i pediatric illnesses. Be havioral problems: hyperactivity; aggression. \200\230Savants \200\231: background of LD ( i.e. isolated abilities, e.g. incredible memory or arithmetic skills). unusually intense sensory responsiveness irritability; temper tantrums; self-injury; a minority may have \200\230islands of precocity \200\231 against a Differential diagnosis Other PDDs; childhood schizophrenia; LD; language disorders; neurolo gical disorders; sensory impairment (deafness or blindness); OCD; psychosocial deprivation. See Box 18.3 for a summary of treatment. Box 18.2 Assessment of autism \200 A multidisciplinary approach is required, involving psychiatrists, psychologists, pediatric ians, neurologists, speech therapists, occupational therapists (OTs), and primary care team s Full clinical evaluation: including physical and mental state as well as speci \201 c de velopmental, psychometric, and educational assessments Rating scales: Autism Behavior Check list (ABC); Childhood Autism Rating Scales (CARS); Autism Diagnostic Interview \200\224Revi sed (ADI-R); Autism Diagnostic Observation Schedule (ADOS); Diagnostic Interview for Social and Communication Disorders (DISCO) Box 18.3 Treatment strategies for autism \200 \200 STRUCTURE, ROUTINE, PREDICTABILITY Aids to improve communication: symbol dictionaries, pict ure boards, social stories Educational and vocational interventions: special versus mainstr eam Behavioral interventions: includes behavior modi \201 cation, social skills training, and CBT methods Family interventions: education; support; advocacy Speech and language ther apy; OT; physiotherapy; dietary advice etc. Pharmacotherapy: symptom management, e.g. antip sychotics for stereotypies; SSRIs for compulsive and self-harming behaviors and depression/ anxiety. Risperidone now has FDA license for autism \200\224 seek expert advice Treat medic al conditions (e.g. epilepsy, GIT problems) \200 \200 \200 1 Brasic JR (2008) Pervasive developmental disorder: autism. M http://www.emedicine.com. 18_Semple_Chap18.indd 761 12/7/2012 3:52:15 PM CHAPTER 18 Learning disability 762 Epilepsy and LD Epilepsy is signi \201 cantly more common in people with a learning disabi lity than in the general population. The prevalence of epilepsy is 740% in the hospitalized LD population and is higher in severe LD (30 \200\22350%) than in mild LD (15 \200\22320%) . It may begin at any age, presentations may change over time, and multiple forms may occur in the same individual. Diagnosis History and examination May be dif \201 cult to obtain accurate informa- tion, o ften relying on third-party accounts (home video may be useful). Try to exclude other diffe rential diagnoses (e.g. infection, trauma, hypoglycae- mia, hyperventilation, withdrawal fr om drugs or alcohol, over-sedation, localizing signs of intracranial pathology, evidence of movement disor- ders). Conduct an MSE, focusing on observed behaviors. Identi \201 cation of any stressors (especially if anxiety-provoking). Investigations Baseline laboratory tests \200\224FBC, U&Es, LFTs, glucose. Consider EEG and CT/MRI (in complex cases video-EEG monitoring may be useful), PET or SPECT (to detect area s of hypometabolism). Co-occurrence \200 Epilepsy is common in patients with LD of various causes, e.g. Down \200\231s syndrome (5 \200\22310%), fragile X (25%), Angelman syndrome (90%), Rett \200\231s syndrome (90%). This may be due to shared aetiologies such as alterations in neuronal development and function, or co-associated brain lesions (hemorrhage, ischaemia, neoplasm, vascular malformation). F requent epileptic seizures may lead to (or worsen) permanent loss of intellectual functioni ng (e.g. \200\230acquired epileptic aphasia \200\231/Landau \200\223 Kleffner syndrome, pr ogressive partial epilepsies such as epilepsia partialis Kozhevnikov or Rasmussen syndrome type 2) emphasizing the need for early diagnosis and treatment to prevent often fatal progr ession. Epilepsy syndromes in infancy and childhood Infancy Early infantile epileptic encephalopath y due to congenital or acquired abnormal cortical development; early myoclonic epileptic en cephalopathy possibly due to metabolic disorders; infantile spasms/ West syndrome1 due to i ntrauterine infections (toxoplasmosis, CMV, rubella), Down \200\231s syndrome, tuberous scl erosis, progressive degenerative disorders, or intracranial tumors; severe myoclonic epilep sy. Childhood A variety of other myoclonic epilepsy syndromes are rec- ognized: Lennox \200\223 Gastaut syndrome, myoclonic-astatic epilepsy (Doose syndrome), progressive myoclonus epilep sies (Baltic or Lafora disease), Northern epilepsy. Treatment Note: practice varies geographically \200\224in some areas the lead is taken by n eurologists, in other areas by LD psychiatrists and/or epilepsy specialist nurses. 18_Semple_Chap18.indd 762 12/7/2012 3:52:15 PM EPILEPSY AND LD 763 Choice of treatment will depend upon a number of factors: Accurate classi \201 cation of t he type of seizures/epilepsy syndrome. Possible drug interactions. Minimizing side-effects (esp. cognitive impairment). \200 \200 IASSID Guidelines2 Collation of evidence for different treatments of epilepsy in LD. \200 \200 Generalized seizures \200\224sodium valproate, lamotrigine. Partial seizures \200\224valpro ate, carbamazepine, lamotrigine. Points to note \200 Behavioral problems may be associated with anti-epileptic drugs, and may be more common in patients with brain injury or LD (e.g. phenobarbitone, primidone, BDZs, vigabatrin). Commun ication dif \201 culties may make assessment of side-effects more dif \201 cult. For intr actable epilepsy, neurosurgery is an option, and it should not be excluded on the basis tha t the person has LD. Prognosis There is wide variation in outcome; however, up to 70% of patients with LD can ac hieve good control of their epilepsy without major side-effects. Common pitfalls \200 Diagnostic overshadowing, explaining new (epileptic) symptoms as being \200\230only \200 \231 due to the LD. Epilepsy may be misdiagnosed in patients with LD, particularly when the re is a history of sudden unexplained aggression, self-mutilation, and other \200\230bizar re \200\231 behaviors, including abnormal or stereotyped movements, \201 xed staring, rap id eye blinking, exaggerated startle re \202 ex, attention de \201 cits, or unexplained i ntermittent lethargy. (If anti- epileptic medication has been previously prescribed for the se kinds of presentations, consider careful withdrawal with close monitoring.) Non-epilepti c (pseudo) seizure disorder can also occur in patients with epilepsy. (Cf. non-cardiac ches t pain in patients with angina.) Epilepsy-related behaviors may also be confused for psychi atric problems, e.g. hallucinations in simple (somatosensory) partial seizures; psychosis-l ike episodes during complex partial seizures (esp. temporal or frontal lobe); or post-ictal confusion. 1 West syndrome is the triad of infantile spasms, mental retardation, and hypsarrhythmia (c har- acteristic EEG \201 nding of chaotic intermixed high-voltage slow waves and diffuse asynchronous spikes). 2 International Association for Scienti \201 c Study of Intellectual Impairment (2001) Clinical guidelines for the management of epilepsy in people with an int ellectual disability. Seizure 10, 401 \200\2239. 18_Semple_Chap18.indd 763 12/7/2012 3:52:15 PM CHAPTER 18 Learning disability 764 Psychiatric comorbidity in LD In the assessment of patients with LD it is important to alwa ys consider comorbid psychiatric illnesses as they are both common and treatable. Psychiatr ic illness is often missed in the LD population because of diagnos- tic overshadowing (symp toms of mental illness mistakenly attributed to the LD). The diagnostic criteria for people with LD (DC-LD) is published by the Royal College of Psychiatrists as an aid to the diagno sis of mental illness in the LD population. Schizophrenia Approximately 3 times more common than in the general population. Age of onse t tends to be earlier (mean 23yrs). More commonly associated with epilepsy, negative sympto ms of schizophrenia, and impairment of epi- sodic memory.1 In severe LD there may be unexpl ained aggression, bizarre behaviors, mood lability, or increased mannerisms and stereotypie s. Bipolar affective disorder Prevalence is estimated to be greater than the general populatio n (2 \200\22312%), with dif \201 culty in making the diagnosis in severe LD. Symptom \200 \230equivalents \200\231 may include: hyperactivity, wandering, mutism, temper tantrums. Depressive disorder Commonly missed as a quiet withdrawn person may not be a focus of clini cal attention. Biological features tend to be more marked, with diurnal variations. Suicida l thoughts and acts may occur in borderline \200\223moderate LD, but are less frequent in s evere. Other causes of mood disturbance (e.g. perimenstrual disorders) should also be consi dered. Other disorders Anxiety disorders May be dif \201 cult to distinguish from depression, exc ept where there are situational features. OCD Reported to be more prevalent in LD. Differential diagnosis: ritu- alistic behaviors, t ic disorders, behavioral manifestations of autism/ Asperger \200\231s disorder. ADHD Often a prominent feature in children with LD (up to 20%). Stimulants may help in mild LD with clear symptoms, but have no clear ef \201 cacy in severe to profound LD. Personality disorder Dif \201 cult to de \201 ne in the LD population, but prevalence is estimated in 720% of mild \200\223moderate LD patients who are inpatients. 1 Doody GA, Johnstone EC, Sanderson TL, Owens DGC, and Muir WJ (1998) Pfropfschizophrenie r evisited: schizophrenia in people with mild learning disability. Br J Psychiatry 173, 145 \200\22353. 18_Semple_Chap18.indd 764 12/7/2012 3:52:15 PM This page intentionally left blank CHAPTER 18 Learning disability 766 Behavioral disorders and \200\230challenging \200\231 behavior Behavioral disorders are ov er-represented in LD populations, ran- ging from minor antisocial behaviors to seriously ag gressive outbursts. Prevalence estimates are 7% of the LD population: 14% for inpatients (e sp. 25 \200\22329-yr-olds), and 5% for those in the community (esp. 15 \200\22319-yr-olds). Studies of behavioral disorders in the LD population identify 6 rela- tively consistent gro upings of pathological behaviors,1 which create a signi \201 cant burden for parents/carer s: \200 Aggression-antisocial: \200 Antisocial behaviors poking/fecal smearing (? s to constipati on); self-induced vomiting/ choking; stealing. Aggressive outbursts Severe physical violenc e Self-injurious behavior beating (more common in severe/profound LD; prevalence 10% overal l, 1 \200\2232% most severe). Shouting, screaming, general noisiness; anal \200 \200 Against persons or property. Rare. Skin picking, eye gouging, head banging, face \200 \200 \200 \200 Social withdrawal. Stereotypic behaviors (some of which may be Hyperactive disruptive behav iors. Repetitive communication disturbance. Anxiety/fearfulness. self-injurious). When these behaviors are particularly severe, they are often termed \200\230challenging \200\231 (see Box 18.4). Associated factors \200 Cognitive functioning language ability, poor social comprehension. Temperament sociability. Physical problems problems, visual/hearing impairment. Medication behavioral, or emotional problems. Sometimes a \200\230drug holiday \200\231 may be helpful to assess how medicati on contributes to the presentation. Psychological factors undetected). sreinforcers, e.g. p raise, environment, aversive stimuli. Communication dif \201 culties Frustration due to in ability to utilize normal forms of communication. Adverse experiences Common to the general population, and also particular to the LD population, e.g. experience of institutions, soc ial rejection, neglect, and emotional, physical, or sexual abuse. Environmental factors of day-to-day activities (a common precipitant is multiple short-term residential placements w ith multiple changes in care staff). The quality of the care environment may be directly re sponsible for behavioral problems and assessment should include factors such as: social Severe intellectual impairment, poor/absent Particularly high emotionality, iactivity, poor , e.g. epilepsy, cerebral palsy, cardiac problems, GI Psychotropic drugs may produce or mask cognitive, preinforcers, e.g. food, drink, pain (often Living conditions, stability and continuity 18_Semple_Chap18.indd 766 12/7/2012 3:52:15 PM behavioral DISORDERS AND \200\230CHALLENGING \200\231 behavior 767 relationships, speci \201 c environmental stressors, consistency of care, and lack of stim ulation. Comorbidity Psychiatric disorders may complicate the presentation of behavioral pr oblems, e.g. ADHD (see b p. 726); conduct disorder/ oppositional de \201 ant disorder (see b p. 625); tic disorders (see b p. 632); anxiety disorders (see b p. 639) \200\224fears/ph obias, separation anxiety (see b p. 640), PTSD (see b p. 646), OCD (see b p. 648); depressi ve disorder (see b p. 652); bipolar disorder (see b p. 656); pervasive developmental disord ers (see b p. 630). Identi \201 cation and appropriate treatment may signi \201 cantly im prove behavioral problems. Behavioral phenotypes Many genetic causes of LD are associated with characteristic patterns of behavior. Recognizing these \200\230behavioral repertoires \200\231 may help in diag- nosis and management, and forms the basis for ongoing research into the genetic basis of so me behavioral problems. Examples include: Down \200\231s syndrome (oppositional, conduct, a nd ADHD); fragile X syndrome (autism, ADHD, stereotypies, e.g. hand \202 apping); Lesch \200\223Nyhan syndrome (self- mutilation); Prader \200\223Willi syndrome (OCD, multiple imp ulsive behavior disorder, e.g. hyperphagia, aggression, skin picking); Smith \200\223Mageni s syn- drome (severe ADHD, stereotypies \200\224 \200\230self-hugging \200\231, severe self -injurious behaviors, insomnia); Williams syndrome ( \200\230pseudomature \200\231 language ability in some; initially affectionate and engaging; later anxious, hyperactive, and unco operative). Box 18.4 Criteria for clinically signi \201 cant challenging behavior \200 At some time the behavior has caused more than minor injuries to themselves or others, or d estroyed their immediate living or working environment. At least weekly behaviors requiring intervention by staff; placed them in physical danger; caused damage that could not be rec ti \201 ed; caused at least 1hr of disruption. Behavior has caused over a few minutes \200 \231 disruption at least daily. Qureshi H (1994) The size of the problem. In Emerson E, McGill P, and Mansell J (eds), Seve re mental retardation and challenging behaviors: designing high quality services. London: C hapman and Hall 1 Einfeld SL and Aman M (1995) Issues in the taxonomy of psychopathology in mental retardat ion. J Autism Dev Disord 25: 143 \200\22367. 18_Semple_Chap18.indd 767 12/7/2012 3:52:15 PM CHAPTER 18 Learning disability 768 Management of behavioral disorders At all stages in assessment and management, it is essent ial to involve par- ents, carers, and other allied professionals (e.g. teachers) both as so urces of information and in implementing any proposed interventions. Assessment \200 \200 \200 \200 Exclusion of psychiatric disorder. Exclusion of physical disorder and assessment of general health. Assessment of physical impairments (vision, hearing, etc.). Assessment of communic ation dif \201 culties (including formal speech and language assessment). Assessment of sp eci \201 c cognitive impairments (including formal psychological testing). Identi \201 ca tion of environmental and social factors. Use of behavioral diaries (by carers/staff): ABCs \200\224antecedents, behaviors, consequences. \200 Management Following assessment, speci \201 c factors should be addressed \200\224psychiat ric/ physical causes, reduction of stimuli/reinforcers, modi \201 cation of environ- menta l factors. Approaches may involve: Educational interventions understanding) and for patients (to ensur e educational needs are being appropriately met in a suitable setting). Social intervention s carers, or widen access to other services or facilities (to provide opportunities for soc ial interaction and improve support networks). Facilitating communication of needs Addressi ng impairments of hearing, vision, and language (including use of pictures, sign language, electronic speech devices). Behavioral interventions operant conditioning (e.g. removal of aversive stimuli, rewarding \200\230good \200\231 behavior, use of appropriate attention \200\224 \200\230neutral \200\231 response to attention-seeking behaviors), secondary reinf orcers, modeling, \200\230positive programming \200\231. Cognitive approaches cognitive im pairment and language abilities \200\224may range from counseling on speci \201 c issues t o simple imitation of relaxation/ breathing techniques. Pharmacotherapy (e.g. ADHD \200\224 stimulants; OCD \200\224SSRIs; antidepressant treatment; tic disorders \200\224antipsychoti cs; epilepsy \200\224anticonvulsants). Sometimes a trial of antipsychotic treatment may be useful for serious aggression, hyperactivity, or stereotypies (often depot; caution in epil epsy; increased risk of EPSEs). Other options for aggression, agitation, or self-injurious behaviors (mainly empirical evidence): anticonvulsants, lithium, -blockers, buspirone. Fo r self-injurious behaviors alone there is some evidence for opiate antagonists (e.g. naltre xone). Both for families/carers (to improve To address unmet needs at home, with family/ Modi \201 cation of behavior using At an appropriate level for degree of Treatment for speci \201 c comorbid conditions 18_Semple_Chap18.indd 768 12/7/2012 3:52:15 PM MANAGEMENT OF behavioral DISORDERS 769 Physical interventions (i.e. restraint): from splints and headgear to isolation (to protect individual and others from injury/damage to property). Any intervention should be closely monitored to ensure compliance, acceptability, and thera peutic response. In the case of medication, side- effects should be minimized and if treatm ent is deemed ineffective drugs should be carefully withdrawn (to avoid secondary problems) . 18_Semple_Chap18.indd 769 12/7/2012 3:52:15 PM CHAPTER 18 Learning disability 770 Transition periods Adolescence This may be a dif \201 cult transitional period; issues tha t may require atten- tion include: \200 Engaging with adult services provided by supported mainstream or special schools may lead t o problems if there is not a smooth transition to adult services. Where appropriate (or ava ilable) this may include moving to social educational/ day centers. Some countries have spe ci \201 c legislation to ensure that needs are identi \201 ed early (e.g. \200\230transi tional planning \200\231 from the age of 14 under the UK Education Act 1993). Social/econom ic independence \200 Loss of the additional support Employment sheltered employment, workshops, or supported open employment. Despite changing attitudes, there are considerable barriers to \201 nding work in the open job market, alt hough for some this may be worth pursuing. Living arrangements increase the burden of care shouldered by the family. For some, the wish for independence or the lack of family support may be best met with small group homes where support may be tailored to individual needs. Sexual relationships the fact that people with LD have normal sexual desires, which can be more of a problem for families/carers than the individuals themselves. Nonetheless, issues raised by appropriate sexual relationships will include consideration of contraception, und erstanding of the responsibilities of parenthood, issues of commitment and marriage. Many p eople, particularly with mild LD, are capable of being successful parents and provide a sta ble environment for children with appropriate support. Policy and practice guidelines will often exist on this contentious topic, for example the \200\230Making choices, keeping saf e \200\231 policy in Lothian. Depending on the level of disability, this may be in Loss of additional social supports may actually Societal views may \201 nd it dif \201 cult to accept Later adulthood \200 