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  • Cited by 21
  • Edited by Patricia Howlin, St George's Hospital Medical School, University of London, Orlee Udwin, Mary Sheridan Centre for Child Health, London
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Book description

Edited by two leading authorities and written by a team of international experts in the field, this book describes the causes, course and treatment of a variety of developmental and genetic disorders, including attention-deficit disorder, fragile X syndrome and the autistic spectrum disorders. There is a particular focus on the course of disorders over time, and outcome in adulthood. Outcome is an area often overlooked in other books about developmental disorders, but is an issue of great importance to parents and carers and one that has important implications for education, health, social and employment services. As well as providing succinct and up-to-date summaries of the most recent research, the authors give clinicians practical guidelines for intervention and management with children and young adults. This book is essential reading for clinicians and psychologists, and anyone working with or caring for children with special educational needs.


‘The book is essential reading for any clinician involved with children or adults with developmental neuropsychiatric disorders. I highly recommend it.’

Source: Doody’s Electronic Journal

‘I enjoyed this book. The twelve chapters are written by researchers in the various disorders and all convey the scholarly enthusiasm of their authors.’

Source: Infant & Child Development

‘… belying its title, this covers all aspects, including aetiology, clinical presentation, and treatment. Initial doubts were soon set aside: this is a rapidly development field and I learned much that was new … I found this an easy read … I would recommend this book to everyone who has to wrestle with the diagnosis of a developmental disorder and its implications.’

Source: Journal of Child Psychology & Psychiatry

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  • 1 - Attention deficit hyperactivity disorder
    pp 1-25
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    This chapter begins by summarizing the research and clinic-based evidence regarding the nature of attention deficit hyperactivity disorder (ADHD). The manner in which the disorder affects individuals as they mature from childhood to adulthood is then discussed, and various intervention strategies are presented. The two main current classification schemes, namely the fourth edition of the Diagnostic and Statistical Manual (DSM-IV), published by the American Psychiatric Association (APA), and the tenth edition of the International Classification of Diseases (ICD-10), published by the World Health Organization (WHO) contain a disorder characterized by a cluster of three core behavioural symptoms: inattention; hyperactivity; and impulsivity. The development of ADHD in individual is likely to be multi-factorial. Genetic contributions, neurobiological factors, illness, psychological variables and environmental factors may all play a role. The three main treatment approaches to ADHD are: pharmacological; psychological; and nutritional. The actual treatment options vary depending on the targets of intervention.
  • 2 - Developmental language disorders
    pp 26-55
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    The term specific language impairment (SLI) is used to refer to problems in the acquisition and use of language. The chapter not only considers language impairment itself but the cognitive, achievement and social-emotional characteristics with which language impairment is associated. It discusses causes of SLI. While there are relatively few studies examining the social and psychiatric outcomes of children with SLI, the evidence that does exist indicates that as adults they are at continuing risk for psychiatric disorder and poor overall social functioning. In addition, the risk for psychiatric disorder increases rather than decreases over time. Nevertheless, one study reporting subjective well being is a reminder that self-perceptions of life quality must be taken into account along with the perceptions of relatives, mental health professionals and researchers. The chapter presents a summary of the clinical implications of SLI.
  • 3 - Reading and other specific learning difficulties
    pp 56-73
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    This chapter focuses on the characteristics of adults with reading and other specific learning disabilities (SLD). Outcomes are described in the following areas: cognitive characteristics; educational attainments; vocational outcomes; self-perceptions and aspirations; and mental health. Neuroanatomical and neurofunctional studies of individuals with reading disabled (RD) have found evidence in support of left hemisphere deficit. The adults with RD include a group of familial dyslexics and a group from a RD treatment programme. Holliday, Koller & Thomas have examined outcomes in a sample of gifted adults with SLD. When aggressive behaviour and learning problems have been linked during early school years it is chiefly through comorbidity with attention deficit hyperactivity disorder (ADHD). Mellard & Hazel recommend that instruction is provided regarding the social skill demands of a variety of settings including secondary school, colleges and the workplace, to improve the chances that the adult with SLD are successful.
  • 4 - Metabolic disorders
    pp 74-111
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    Phenylketonuria (PKU) is one of the commonest inborn errors of metabolism. The principle of treatment for PKU is the provision of a diet sufficiently low in phenylalanine so that plasma levels fall within a range that permits normal brain growth and development. Classical galactosaemia, the major disorder of galactose metabolism, was first described in detail by Mason and Turner in 1935. Lactose restriction in classical galactosaemia prevents cataracts, liver failure and death. The amino acid homocysteine is formed during metabolic conversion of essential sulphur-containing amino acid methionine to non-essential amino acid cysteine. The most common clinical features of untreated classical homocystinuria include myopia due to lens dislocation, osteoporosis, skeletal deformities, marfanoid appearance, learning difficulties, psychiatric disturbances and vascular complications. Homocystinuria caused by defects of folate and cobalamin metabolism is treated with a combination of folic acid and vitamin B12.
  • 5 - Hemiplegic cerebral palsy
    pp 112-135
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    Cerebral palsy (CP) is the single largest cause of severe physical disability in childhood. The subclassification of CP is based on the type and distribution of motor problems. Spasticity - involving stiffness and weakness of affected muscles - is usually a dominant motor problem. Prematurity is an important risk factor for diplegic CP. Children with hemiplegic CP can be divided into two main groups: congenital hemiplegia and acquired hemiplegia. Many children with hemiplegic CP meet the diagnostic criteria of anxiety disorder. Autistic disorders such as infantile autism and Asperger syndrome affect around 3% of children with hemiplegic CP. Maudsley Hospital's Brain and Behaviour Clinic treated around 150 children with the psychological complications of hemiplegic CP. The London Hemiplegia Register (LHR) follow-up study of 18 to 25 year old with hemiplegic CP also assessed the psychosocial adjustment of the 81 individuals.
  • 6 - Autistic disorders
    pp 136-168
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    Autism is a pervasive developmental disorder that is usually apparent from early childhood. The autism is characterized by deficits in three domains: communication; social understanding, and rigid and repetitive patterns of behaviour. Although autism is associated with a range of behavioural difficulties, including aggression, temper-tantrums, destructiveness, toileting, and eating and sleeping difficulties, these also occur in many other developmental disorders. Initial follow-up studies of adults with autism were largely anecdotal and unsystematic but towards the end of 1960s Rutter and his colleagues conducted a detailed assessment of 38 young adults first diagnosed as autistic during 1950s and 1960s. Studies of home-based interventions, specifically designed for young children with autism, indicated that if parents can be helped to develop appropriately structured and consistent management strategies from the outset this can enhance social, cognitive and linguistic development and minimize behavioural problems.
  • 7 - Down syndrome
    pp 169-197
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    The majority of people with Down syndrome are referred to as standard trisomy 21. Despite their intellectual disabilities, people with Down syndrome have popularly been viewed as particularly loving and lovable people. Many different environmental conditions have been considered as possibly causing Down syndrome. Major exposure to radiation, for example from an atomic explosion, may actually result in fewer babies with Down syndrome, probably because of an increased miscarriage rate. Most people with Down syndrome enjoy reasonably good health, although heart, skin and sensory problems may be troublesome. People with Down syndrome appear to be less vulnerable to a number of psychiatric disorders - neuroses, schizophrenia, paranoia - than are individuals with other learning disabilities. Exploration of the indicators of Alzheimer's disease in people with Down syndrome has focused on three main areas: general ability (IQ); memory; and daily living skills such as dressing and toileting.
  • 8 - Fragile X syndrome
    pp 198-219
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    Fragile X syndrome (FXS) causes learning and emotional problems without mental retardation. Clinical involvement in fragile X is generally believed to result from a lack of fragile X mental retardation 1 (FMR1) protein (FMRP). The physical phenotype of FXS is associated with a connective tissue disorder. Medical complications associated with the connective tissue abnormality in FXS include higher incidence of inguinal or umbilical hernia, gastrooesophageal reflux in infancy, an occasional joint dislocation, particularly at the shoulder, elbow or kneecap, and mitral valve prolapse secondary to a floppy mitral valve, which occurs in approximately 50% of adults with fragile X. The sensitivity that children with FXS demonstrate to visual, tactile, auditory and olfactory stimuli is described collectively as sensory integration dysfunction. The use of psychopharmacology, individual therapy in the language and motor area and psychological interventions can be quite helpful for the developmental and behavioural difficulties associated with FXS.
  • 9 - Prader-Willi and Angelman syndromes: from childhood to adult life
    pp 220-240
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    The Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct syndromes that have in common either deletion at the locus 15q11.2 or the presence of genetic abnormalities of chromosome 15. PWS is likely to be a contiguous gene syndrome in which the failure of expression of specific maternally imprinted genes is of aetiological significance. In contrast, AS has been shown to be due to the loss of expression of a single paternally imprinted gene. This may occur because of a mutation affecting UB3EA, the deletion of the maternal copy of that gene, or the presence of a paternal chromosome 15 disomy. This genetic map is illustrated in this chapter. PWS and AS have illustrated the importance of a specific genetic mechanism on human development and how the expression or not of specific imprinted gene(s) has radically different effects on development and behaviour.
  • 10 - Rett disorder
    pp 241-271
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    This chapter briefly outlines the abnormalities underlying the Rett syndrome; to describe how the disorder may present at various stages of life; and how the associated problems may be dealt with. There are severe early disturbances of sleep rhythms in Rett syndrome suggesting early involvement of the monoamine system. The brain is immature in the Rett disorder and remains poorly equipped for the demands of maturation and ageing. The criteria for 'classic' Rett syndrome were agreed by international consensus in order to facilitate comparison between cases from different centres. Adults with Rett syndrome are shorter than the rest of their family. Gastrointestinal reflux is another common problem in adults, causing pain and loss of appetite. Poor posture, difficulties with feeding technique and gaseous distension probably contribute, and low parasympathetic tone may be implicated. Manual dyspraxia is one of the chief problems associated with Rett disorder.
  • 11 - Tuberous sclerosis
    pp 272-298
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    This chapter delineates the most salient factors in the outcome of tuberous sclerosis. It begins with a brief historical overview of the tuberous sclerosis complex (TSC) and proceeds to review current knowledge about the genotype, the physical phenotype and the behavioural phenotype. The chapter highlights the lifespan issues relating to outcome, before summarizing the key issues in assessment and intervention for children and adults with the TSC. The mechanism proposed to account for the variability of expression in tuberous sclerosis is based on Knudson's two hit model of tumour pathogenesis. Tuberous sclerosis can give rise to lesions virtually in any part of the body. The diagnostic criteria highlights the spectrum of features in the skin, eyes, heart, lungs and the Central nervous system (CNS). Brain size is normal in most cases of tuberous sclerosis. The TSC is associated with a spectrum of behavioural, psychological and psychiatric problems.
  • 12 - Williams and Smith-Magenis syndromes
    pp 299-326
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    This chapter briefly discusses the genetic underpinnings, physical features and natural history of Williams syndrome and Smith-Magenis syndrome, and the cognitive and behavioural characteristics associated with these conditions in childhood. It then explores their long-term course, their effects on adjustment in adulthood and implications for support and intervention for affected individuals across the life span. Williams syndrome is a developmental disorder involving the vascular, connective tissue and central nervous systems. Studies have highlighted a distinctive psychological profile, and unusual personality and behavioural characteristics that are associated with Williams syndrome that differentiate affected children from other groups with learning disabilities. Children with Smith-Magenis syndrome tend to pose severe management problems for their carers due to hyperactivity, aggressive outbursts, self-injurious behaviours and sleep disturbance. Parents' interventions have focused on keeping their children safe at night and attempting to minimize the sleep disruption caused by night-waking.


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