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ABC of Neurodevelopmental Disorders An accessible and up-to-date discussion of the most common neurodevelopmental disorders ABC of Neurodevelopmental Disorders In ABC of Neurodevelopmental Disorders, Dr Munib Haroon delivers an insightful and practical introduction to various neurodevelopmental conditions, as well as discussions about their most common comorbid mental health conditions. The author offers a broad overview of neurodiversity and neurodevelopmental disorders to help you understand how people who are neurodivergent may present in a clinical environment, how they should be assessed, and how they can best be managed. Each chapter provides a list of resources for further reading and for exploring these evolving, important, and fascinating topics in greater detail. You'll also find: * A thorough introduction to ADHD, autism, intellectual developmental disorders, tics and Tourette's disorder, developmental co-ordination disorder and specific learning disorder * An introduction to clinical and non-clinical outcomes for different neurodevelopmental disorders * Chapters on the assessment of mental health conditions in children, young people and adults with neurodevelopmental disorders * Discussion about the genetic basis of neurodevelopmental disorders, including a specific chapter on this topic * A standalone chapter on Foetal Alcohol Spectrum Disorder Aimed at doctors and mental health practitioners including community paediatricians, psychiatrists, psychologists, counsellors, addiction specialists, social workers and trainees in these fields. ABC of Neurodevelopmental Disorders will also benefit healthcare workers who regularly treat neurodivergent people in a variety of settings.
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Cover
Table of Contents
Title Page
Copyright Page
List of Contributors
Preface
Acknowledgements
Contributor Acknowledgements
List of Abbreviations
CHAPTER 1: An Introduction to Neurodevelopmental Disorders
What is a neurodevelopmental disorder?
Classification schemes
Medical models and social models
Neurodiversity
Intended readers
What follows…
Further reading
CHAPTER 2: An Introduction to ADHD and Its Presentation
What is ADHD?
History
Epidemiology
Aetiology
Clinical features
Conclusion
Further reading
CHAPTER 3: The Assessment and Diagnosis of ADHD in Children and Young People
Referrals for suspected ADHD
What happens at the specialist clinic?
History
Examination
Biomedical tests
Diagnosis
Diagnostic counselling
Further reading
CHAPTER 4: The Treatment and Outcomes of Children and Young People with ADHD
Medication
Outcomes
Further reading
CHAPTER 5: ADHD: Adult Considerations
Key features
Transitional care, assessment and making a diagnosis in adulthood
Assessment in adults
Treatment
Prognosis
Criminal justice system
Conclusion
Further reading
CHAPTER 6: An Introduction to Autism
History
Prevalence
Aetiology
Classification
Asperger's syndrome and pathological demand avoidance
Autism in culture
Further reading
CHAPTER 7: The Presentation, Assessment and Diagnosis of Autism in Children and Young People
First concerns
Normal development
Male versus female
Signs of autism in the pre‐school child
School‐aged children
Older adolescents
History
Examination
Differential diagnosis and comorbid conditions
Biomedical tests
Diagnosis
Further reading
CHAPTER 8: Interventions for Autistic Children and Young People
High‐quality interventions
Evidence‐based medicine
Non‐pharmacological interventions in children
Pharmacological interventions in children
Further reading
CHAPTER 9: Autism: Adult Considerations
Features of autism in adults
Assessment and diagnosis of autism
Interventions
Living with autism
Conclusion
Further reading
CHAPTER 10: An Introduction to Intellectual Developmental Disorders
Aetiology
Further reading
CHAPTER 11: The Assessment and Diagnosis of Intellectual Developmental Disorders in Children and Young People
Clinical assessment
History
Examination
Cognitive and adaptive functioning assessment
Additional tests
Conclusion
Further reading
CHAPTER 12: The Treatment of Intellectual Developmental Disorders in Children and Young People
Intellectual developmental disorders in hospitals
Transitions
Further reading
CHAPTER 13: Intellectual Developmental Disorders in Adults
Diagnosis of intellectual developmental disorder in adulthood
Management of intellectual developmental disorder in adulthood
Physical health
Mental health
Ageing with an intellectual developmental disorder
Dementia and intellectual developmental disorders
Death and dying with intellectual developmental disorder
Further reading
CHAPTER 14: An Introduction to Tic Disorders and Tourette's Disorder
History
Definitions and features
Classification
Epidemiology
Comorbidities
Pathophysiology
PANDAS
Further reading
CHAPTER 15: The Assessment and Diagnosis of Tic Disorders
Initial assessment
Further assessment
Functional movement disorders
Functional tic‐like behaviours
Further reading
CHAPTER 16: The Management and Outcome of Tic Disorders
Psychoeducation and support
Treat comorbidities, sleep and pain management
Psychology
First‐line pharmacological management
Second‐line medications
Other medications
Other treatment modalities
Prognosis, outcome and adult care
Further reading
CHAPTER 17: An Introduction to Developmental Coordination Disorder
Epidemiology
Aetiology
Associated conditions
Adulthood and developmental coordination disorder
Further reading
CHAPTER 18: The Assessment and Diagnosis of Developmental Coordination Disorder
Assessment of developmental coordination disorder
Clinical features
Other investigations
Finalising a diagnosis
Developmental coordination disorder in adults
Further reading
CHAPTER 19: Treatment and Interventions for Developmental Coordination Disorder
Interventions for developmental coordination disorder
Further reading
CHAPTER 20: An Introduction to Specific Learning Disorder
Definition
History
Epidemiology
Aetiology
Key features
Prognosis and outcomes
Further reading
CHAPTER 21: The Assessment and Diagnosis of Specific Learning Disorder in Children and Young People
Assessment criteria
Specialist assessment
Assessment tools
Comorbidity and secondary factors
Further reading
CHAPTER 22: Specific Learning Disorder: Interventions and Management
Intervention as part of the diagnostic process
The purpose of intervention
Key principles of intervention
Use of teaching assistants
Which intervention?
Assistive technology
Specialist teaching
Further reading
CHAPTER 23: Supporting Specific Learning Disorder into Adulthood
Equality Act 2010
Higher education
Working on computers or other devices
Leisure
Employment
Further reading
CHAPTER 24: Foetal Alcohol Spectrum Disorder
History and definitions
Epidemiology
Aetiology
Prevention
Diagnosis
Management
Prognosis and outcome
Further reading
CHAPTER 25: Mental Health Conditions in Children and Young People with Neurodevelopmental Disorders
Anxiety disorders
Depressive disorders
Obsessive compulsive disorder
Schizophrenia spectrum and other psychotic disorders
Feeding and eating disorders
Oppositional defiant disorder
Conduct disorder
Comorbidity in individual neurodevelopmental disorders
Autism spectrum disorder
Attention deficit hyperactivity disorder
Tic disorders
Conclusion
Further reading
CHAPTER 26: Assessing Mental Health Conditions in Children and Young People with Neurodevelopmental Disorders
Why is a diagnosis important?
Making a diagnosis
When to refer to child and adolescent mental health services
Self‐harm/suicide risk
Conclusion
Further reading
CHAPTER 27: Treating Mental Health Conditions in Children and Young People with Neurodevelopmental Disorders
Psychological interventions
Medication
Managing sleep difficulties
Self‐harm
Further reading
CHAPTER 28: Adult Mental Health in Neurodevelopmental Disorders: Autism
Incidence of mental health disorders in adult autism
Depressive disorders
Anxiety disorders
Obsessive compulsive and related disorders
Bipolar and related disorders
Schizophrenia spectrum and other psychotic disorders
Substance‐related and addictive disorders
Feeding and eating disorders
Personality disorders
Reasonable adjustments in mental health settings
Further reading
CHAPTER 29: Adult Mental Health in Neurodevelopmental Disorders: Intellectual Developmental Disorder, Attention Deficit Hyperactivity Disorder, Tourette's Disorder and Other Conditions
Intellectual developmental disorder/intellectual disability
Attention deficit hyperactivity disorder
Tourette's disorder
Other neurodevelopmental disorders
Conclusion
Further reading
CHAPTER 30: The Genetic Basis of Neurodevelopmental Disorders
Genetic basis of severe intellectual disability
Contribution of common genomic variations to autistic spectrum disorder
Conclusion
Further reading
CHAPTER 31: Neurodivergency on a Day‐to‐Day Basis
Difference can require a different approach
Dealing with the person not the label
Being environmentally aware
No man is an island
Strengths
Think about the comorbidities
The law
School
Work
Housing
Relationships
Further reading
Index
End User License Agreement
Chapter 1
Table 1.1 Comparison of classification schemes ICD‐11 and DSM‐5‐TR for ne...
Chapter 5
Table 5.1 ADHD is associated with an increased overall risk of death in a...
Chapter 7
Table 7.1 Speech, communication and socialisation at different ages.
Chapter 8
Table 8.1 Medications with known efficacy in autistic children and young ...
Chapter 10
Table 10.1 Typical developmental parameters for motor, speech/language an...
Table 10.2 Characteristics associated with different severities of intell...
Table 10.3 Categorisation of intellectual developmental disorder accordin...
Chapter 11
Table 11.1 Examples of specific genetic testing in intellectual developme...
Chapter 14
Table 14.1 Examples of motor and vocal tics.
Table 14.2 Comorbidities in Tourette's.
Table 14.3 Summary of diagnostic criteria for PANDAS and PANS.
Chapter 15
Table 15.1 Relevant factors to explore from history taking.
Table 15.2 Stereotypies with different hyperkinetic movements seen in chi...
Table 15.3 Relevant details to explore from history and examination of a ...
Chapter 20
Table 20.1 Specific learning disorders overview.
Chapter 22
Table 22.1 The MOSS (Multisensory, Over‐learning, Structured, Sequential)...
Table 22.2 Features of intervention for dyslexia.
Table 22.3 Features of intervention for dysgraphia.
Table 22.4 Features of intervention for dyscalculia.
Chapter 24
Table 24.1 The 10 areas of neurodevelopmental assessment.
Table 24.2 Diagnostic algorithm based on Sign156 guidance.
Chapter 25
Table 25.1 Prevalence of psychiatric disorders among individuals with aut...
Table 25.2 Eating disorders and the association with autism (approximate ...
Chapter 27
Table 27.1 Interventions in psychiatric comorbidities of neurodevelopment...
Table 27.2 Medications for sleep used in children/adolescents.
Chapter 28
Table 28.1 Common reasonable adjustments in healthcare settings.
Chapter 1
Figure 1.1 The classification schemes for neurodevelopmental disorders.
Chapter 2
Figure 2.1 ADHD can be seen as presenting with a combined form where all thr...
Figure 2.2 The underlying brain, neuronal and genetic basis for ADHD is beco...
Chapter 3
Figure 3.1 The route to a specialist clinic often involves the GP, either di...
Figure 3.2 The assessment and diagnosis of ADHD consist of several steps, be...
Chapter 4
Figure 4.1 Different medications should be used in a step‐wise progression a...
Chapter 5
Figure 5.1 Medication for ADHD should be prescribed sequentially according t...
Chapter 6
Figure 6.1 Autism is defined by the presence of features in two broad catego...
Figure 6.2 A timeline showing some of the early pioneers in autism.
Figure 6.3 In DSM‐5‐TR the term ‘autism spectrum disorder’ has replaced ‘old...
Figure 6.4 The DSM‐5‐TR classification of autism spectrum disorder is based ...
Chapter 7
Figure 7.1 There are many clinical features that may be seen in autistic chi...
Chapter 8
Figure 8.1 Healthcare interventions require the involvement of parents/carer...
Figure 8.2 STEEEP: the six dimensions of high‐quality care.
Figure 8.3 Hierarchy of evidence.
Figure 8.4 Psychosocial interventions should be underpinned by a systematic ...
Chapter 9
Figure 9.1 There are a number of intervention available for autistic adults....
Figure 9.2 While language skills and cognitive abilities are recognised as b...
Chapter 11
Figure 11.1 The assessment of a child/young person with intellectual develop...
Figure 11.2 Steps in diagnostic assessment of a child/young person with poss...
Chapter 12
Figure 12.1 Health professionals may be involved in supporting a child with ...
Figure 12.2 A child with intellectual developmental disorder may require hea...
Chapter 13
Figure 13.1 Median age of death in people with an intellectual developmental...
Chapter 14
Figure 14.1 The different types of tic disorders. These mostly differ in ter...
Figure 14.2 Common comorbidities in Tourette's disorder: ADHD, attention def...
Chapter 15
Figure 15.1 Abnormal movements in children. AHC, alternating hemiplegia of c...
Chapter 16
Figure 16.1 Summary of management approach. ADHD, attention deficit hyperact...
Figure 16.2 Prognosis of children and young people with Tourette's disorder....
Chapter 17
Figure 17.1 Developmental coordination disorder (DCD) is characterised by fo...
Figure 17.2 The primary stressor for the physical and mental health problems...
Chapter 18
Figure 18.1 Assessment of developmental coordination disorder (DCD).
Chapter 19
Figure 19.1 The child or young person (CYP) with developmental coordination ...
Figure 19.2 There are two broad approaches to interventions for development ...
Figure 19.3 Exercise/physical activity may provide a ‘triple win’ by helping...
Figure 19.4 Support for Sarah, an adult with developmental coordination diso...
Chapter 21
Figure 21.1 The Assess–Plan–Do–Review cycle.
Figure 21.2 Features of specific learning disorders (ESL, English as a secon...
Figure 21.3 Venn diagram of comorbid factors.
Chapter 24
Figure 24.1 Descriptive terms for the neurodevelopmental consequences of pre...
Figure 24.2 All three sentinel facial features must be present for a diagnos...
Figure 24.3 Professionals involved in multidisciplinary assessment of a youn...
Figure 24.4 Management requires a collaborative approach between all those i...
Chapter 26
Figure 26.1 Why a diagnosis is important.
Chapter 27
Figure 27.1 Considerations for safe discharge from hospital.
Chapter 28
Figure 28.1 Neurodivergent and neurotypical people can perceive the world ar...
Chapter 29
Figure 29.1 An approach to assessing mental health in intellectual developme...
Chapter 30
Figure 30.1 IQ distribution in the general population.
Figure 30.2 Diagnostic decision tree for intellectual disability (ID). aCGH,...
Figure 30.3 Venn diagram illustrating the genomic overlap between intellectu...
Figure 30.4 Both very rare and more common variants contribute to autism spe...
Figure 30.5 The combination of certain different and frequently occurring si...
Chapter 31
Figure 31.1 The clinical presentation of neurodivergency and of neurodevelop...
Figure 31.2 No man is an island. Personal networks are important. It is impo...
Figure 31.3 Adjustment and adaptations at work. There are different types of...
Cover Page
Title Page
Copyright Page
List of Contributors
Preface
Acknowledgements
List of Abbreviations
Table of Contents
Begin Reading
Index
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Edited by
Munib Haroon
Consultant Community Paediatrician & Trust Lead for Paediatric ADHD
Pinderfields Hospital
Mid Yorkshire Teaching NHS Trust
Wakefield, UK
This edition first published 2024© 2024 by John Wiley & Sons Ltd
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Limit of Liability/Disclaimer of WarrantyThe contents of this work are intended to further general scientific research, understanding, and discussion only and are not intended and should not be relied upon as recommending or promoting scientific method, diagnosis, or treatment by physicians for any particular patient. In view of ongoing research, equipment modifications, changes in governmental regulations, and the constant flow of information relating to the use of medicines, equipment, and devices, the reader is urged to review and evaluate the information provided in the package insert or instructions for each medicine, equipment, or device for, among other things, any changes in the instructions or indication of usage and for added warnings and precautions. While the publisher and authors have used their best efforts in preparing this work, they make no representations or warranties with respect to the accuracy or completeness of the contents of this work and specifically disclaim all warranties, including without limitation any implied warranties of merchantability or fitness for a particular purpose. No warranty may be created or extended by sales representatives, written sales materials or promotional statements for this work. This work is sold with the understanding that the publisher is not engaged in rendering professional services. The advice and strategies contained herein may not be suitable for your situation. You should consult with a specialist where appropriate. The fact that an organization, website, or product is referred to in this work as a citation and/or potential source of further information does not mean that the publisher and authors endorse the information or services the organization, website, or product may provide or recommendations it may make. Further, readers should be aware that websites listed in this work may have changed or disappeared between when this work was written and when it is read. Neither the publisher nor authors shall be liable for any loss of profit or any other commercial damages, including but not limited to special, incidental, consequential, or other damages.
Library of Congress Cataloging‐in‐Publication DataNames: Haroon, Munib, editor.Title: ABC of neurodevelopmental disorders / [edited by] Munib Haroon.Description: Hoboken, NJ : Wiley‐Blackwell, 2024. | Includes index.Identifiers: LCCN 2023054312 (print) | LCCN 2023054313 (ebook) | ISBN 9781119900177 (paperback) | ISBN 9781119900184 (adobe pdf) | ISBN 9781119900153 (epub)Subjects: MESH: Neurodevelopmental DisordersClassification: LCC RJ486.5 (print) | LCC RJ486.5 (ebook) | NLM WS 350.7 | DDC 618.92/8–dc23/eng/20240112LC record available at https://lccn.loc.gov/2023054312LC ebook record available at https://lccn.loc.gov/2023054313
Cover Design by WileyCover Image: © iMrSquid/Getty Images
Julie ArmstrongSEND Development Team ManagerWakefield CouncilWakefield, UK
Elizabeth BirleySpecialty Doctor, Community PaediatricsHull University Teaching Hospitals NHS TrustHull, UK
Conor DavidsonConsultant PsychiatristClinical Lead, Leeds Autism Diagnostic ServiceRoyal College of Psychiatrists Autism ChampionLeeds, UK
Sharmi GhoshHigher Trainee in PsychiatryLeeds Autism Diagnostic ServiceLeeds, UK
Munib HaroonConsultant Community Paediatrician & Trust Lead for Paediatric ADHDPinderfields HospitalMid Yorkshire Teaching NHS TrustWakefield, UK
Alwyn KamSpecialty Doctor in Psychiatry of Learning DisabilityLeeds Autism Diagnostic ServiceLeeds, UK
Tracy LaverickSenior Educational Psychologist and LecturerLeeds Trinity UniversityLeeds, UK
Keri‐Michèle LodgeConsultant in the Psychiatry of Intellectual DisabilityLeeds and York Partnership NHS Foundation TrustLeeds, UK
Mini PillayConsultant Child and Adolescent Psychiatrist (Learning Disabilities)Rotherham Doncaster and South Humber NHS Foundation TrustRotherham, UK
Ayesha QureshiConsultant Community PaediatricianAllens Croft Children's CentreBirmingham Community Healthcare TrustBirmingham, UK
F. Lucy RaymondProfessor of Medical Genetics and NeurodevelopmentDepartment of Medical GeneticsUniversity of CambridgeCambridge, UK
Fraser ScottPaediatric Consultant & Trust Lead for Paediatric EpilepsyPinderfields HospitalMid Yorkshire Teaching NHS TrustWakefield, UK
Monica ShahaCAMHS Clinical LeadPsychiatry‐UK LLPLeeds, UK
Unlike the contributors to this book, the vast majority of healthcare professionals are not in the business of diagnosing and/or managing neurodevelopmental conditions (or ‘disorders’, to use the official nomenclature). But it is highly likely, given the prevalence of such disorders, that the typical doctor, nurse, therapist or equivalent will be involved in the care of people who are neurodivergent at some point in their career. As such, I have always believed that learning about neurodiversity and the conditions/disorders frequently associated with such states of being should get ample coverage in training and in continuing professional development programmes. Thus appropriate sources of information for professionals need to exist to support this (and also to help inform the interested person). These should not be so big as to be unwieldy, nor so small as to be almost uninformative. I hope this book straddles that Goldilocks zone, is easily digestible, and bears the reader in good stead for their clinical practice.
Munib Haroon
A very big ‘thank you!’ to all the chapter contributors and to your families and loved ones. I appreciate the time, dedication and expertise that has gone into the writing.
All the authors have learnt a lot from colleagues and mentors over the years, and also our patients – and this book has benefited from the collective experiences of interacting with them.
Thank you to Wiley for supporting another one of my endeavours. Starting with James Watson, the Commissioning Editor at the outset; Moyuri Handique, Managing Editor; and thank you also to Ella Elliot, Editorial Assistant. Thank you to Sally Osborn for your copyediting expertise and also Samras Johnson V, Content Refinement Specialist.
Thank you to Sarah Hughes, Laura Archer, Rebecca Barrass and Rachel Beanland for reading chapters and for making helpful suggestions. Thank you to Alison Stansfield for the use of work from our previous joint venture.
I would like to acknowledge the moral support of the Mid Yorkshire Teaching NHS Trust during the writing of this book, specifically Kath, Andrew, Denise, Freya, my departmental colleagues, and also the staff at the medical library, who have found papers at short notice, performed searches and helped obtain new books – and kept them checked out for me – and whose stock of fiction has also offered relief. I am grateful for the presence of the British Library in Boston Spa, a blessing to have such a great facility so far outside of London!
I want to thank a number of neurodivergent people (and their partners) who wrote some of the case studies. Thank you to M and N, and to Rizwan Iqbal for sharing your insights with me and with the future readership of this book. I am very grateful! Thank you also to Elizaveta Dydykina for writing a vignette, for reading and commenting on several chapters, providing suggestions for the cover image, and for sharing your thoughts about neurodiversity (and your encyclopaedic knowledge) with me; your thoughts have influenced my thinking and outlook, and this book is all the better for them.
Finally, my love and thanks to my family for their enduring support. A few short lines of thanks do not do justice to all the patience needed to put up with me, especially when I'm in ‘writer's mode’. Thank you to HPPJ, for specific help with one section and for all the regular SMS messages. And to Malcolm, Carole, The Walkers, Abbo, Ammi, Sophie (‘with the highest distinction’) and Mubin: Thank you!
Munib Haroon
July 2023
North Yorkshire
For William, Sophie and Alice. You are my world. And for Andy, because he said I had to.
Elizabeth Birley
For my brother, David, and my father, Peter – brightest stars, you showed me the way. Shine on.
Keri‐Michèle Lodge
For my mum, who would have been proud to see her son a published author but would have enjoyed correcting my English!
Fraser Scott
3DI
Developmental, Dimensional and Diagnostic Interview
ADHD
attention deficit hyperactivity disorder
ADI‐R
Autism Diagnostic Interview–Revised
ADL
activities of daily living
ADOS
Autism Diagnostic Observation Schedule
AHC
alternating hemiplegia of childhood
ARBD
alcohol‐related birth defects
ARFID
avoidant restrictive food intake disorder
ARND
alcohol‐related neurodevelopmental disorder
ASD
autism spectrum disorder
BACD
British Association of Childhood Disability
BARD
bipolar and related disorders
BAS 3
British Ability Scale 3
BDI
Beck Depression Inventory
BNF
British National Formulary
BOT‐2
Bruininks‐Oseretsky Test of Motor Proficiency Second Edition
BRIEF
Behavior Rating Inventory of Executive Function
CAMHS
Child and Adolescent Mental Health Services
CbD
cannabidiol
CBiT
comprehensive behavioural intervention for tics
CBT
cognitive behavioural therapy
CD
conduct disorder
CELF‐5
Clinical Evaluation of Language Fundamentals–5
CGH
comparative genomic hybridisation
ChOCI
Obsessional Compulsive Inventory
CI
confidence interval
CNV
copy number variant
CSTS
cortico‐striatal‐thalamo‐cortical
CTOPP‐2
Comprehensive Test of Phonological Processing–2
DBS
deep brain stimulation
DBT
dialectical behaviour therapy
DCD
developmental coordination disorder
DEE
developmental and epileptic encephalopathy
DISCO
Diagnostic Interview for Social and Communication Disorders
DRPLA
dentatorubral‐pallidoluysian atrophy
DSM‐5‐TR
Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision
DSQIID
Dementia Screening Questionnaire for Individuals with Intellectual Disabilities
DVLA
Driver and Vehicle Licensing Agency
ECG
electrocardiogram
EDE‐Q
Eating Disorder Examination Questionnaire
EEG
electroencephalogram
EHCP
Education, Health and Care plan
ERP
exposure and response prevention
EuPD
emotionally unstable personality disorder
FAS
foetal alcohol syndrome
FASD
foetal alcohol spectrum disorder
FHM
familial hemiplegic migraine
FMD
functional movement disorder
FND
functional neurological disorder
FTLB
functional tic‐like behaviour
GARS‐3
Gilliam Autism Rating Scale
GDD
global developmental delay
GORT‐5
Grey Oral Reading Test–5
GWAS
genome‐wide association study
HADS
Hospital Anxiety and Depression Scale
HCPC
Health and Care Professions Council
HIV
human immunodeficiency virus
HR
hazard ratio
HRT
habit reversal training
ICD
International Classification of Diseases
ID
intellectual disability
IDD
intellectual developmental disorder
IQ
intelligence quotient
LD
learning disability
MABC‐2
Movement Assessment Battery for Children–Second Edition
MEP
motor evoked potential
MMR
measles, mumps and rubella
MRI
magnetic resonance imaging
MRR
mortality rate ratio
NBIA
neurodegeneration with brain iron accumulation
NDD
neurodevelopmental disorder
ND‐PAE
neurobehavioural disorder associated with pre‐natal alcohol exposure
NICE
National Institute for Health and Care Excellence
NMS
neuroleptic malignant syndrome
NSSI
non‐suicidal self‐injury
OCD
obsessive compulsive disorder
OCI
Obsessive‐Compulsive Inventory
ODD
oppositional defiant disorder
OR
odds ratio
PAE
pre‐natal alcohol exposure
PANDAS
paediatric autoimmune neuropsychiatric disorder associated with streptococcal infection
PANS
paediatric acute‐onset neuropsychiatric syndrome
PANSS
Positive and Negative Syndrome Scale
PDA
pathological demand avoidance
PDD‐NOS
pervasive developmental disorder not otherwise specified
PEACE
Pathway for Eating disorders and Autism developed from Clinical Experience
PED
paroxysmal exercise‐induced dyskenesia
PF
palpebral fissure
pFAS
partial foetal alcohol syndrome
PhAB
Phonological Assessment Battery
PKD
paroxysmal kinesiogenic dyskenesia
PMD
paroxysmal movement disorder
PNKD
paroxysmal non‐kinesiogenic dyskenesia
PRS
polygenic risk score
PUTS
Premonitory Urge for Tics Scale
QbTest
Quantitative Behavioural Test
RCADS
Revised Child Anxiety and Depression Scale
RCT
randomised controlled trial
rTMS
repetitive transcranial magnetic stimulation
SASC
Specialist Assessments Standards Committee
SD
standard deviation
SDQ
Strengths and Difficulties Questionnaire
SEN
special educational needs
SENCO
special educational needs coordinator
SIGN
Scottish Intercollegiate Guidelines Network
SLD
specific learning difficulty
SNAP
Swanson, Nolan and Pelham scale
SNP
single‐nucleotide polymorphism
SNRI
selective noradrenaline reuptake inhibitor
SpLD
specific learning disorder
SSRI
selective serotonin reuptake inhibitor
STEEEP
safe, timely, effective, efficient, equitable, patient‐centred
STOMP
Stopping Over‐Medication of People with a learning disability, autism or both
STAMP
Supporting Treatment and Appropriate Medication in Paediatrics
SUD
substance use disorder
SUDIC
sudden unexpected death in childhood
TBS
theta burst stimulation
tDCS
transcranial direct current stimulation
THC
tetrahydrocannabinol
TMS
transcranial magnetic stimulation
VOUS
variants of uncertain significance
WIAT
Wechsler Individual Achievement Test
WISC
Wechsler Intelligence Scale for Children
YARC
York Assessment of Reading Comprehension
Y‐BOCS
Yale Brown Obsessive‐Compulsive Scale
YGTSS
Yale Global Tic Severity Scale
Munib Haroon
Neurodevelopmental disorders (NDDs) are relatively common conditions.
They arise in the developing brain and so have features typically present in childhood.
They can present with developmental differences and alterations in personal, social, academic or occupational functioning.
They include autism, ADHD, Tourette's disorder/tic disorders, developmental coordination disorder, intellectual developmental disorders (intellectual disability) and specific learning disorder.
NDDs often co‐occur in the same individual.
NDDs are associated with mental health difficulties and other physical conditions.
NDDs can be viewed as diversity/difference/divergence, difficulty, disorders or disabilities, according to context and different models of health.
Neurodevelopmental disorders (see Box 1.1) arise in the developing brain; their features are typically present from childhood (but may escape attention until later on in adolescence or adulthood). They may include differences in patterns of development or result in alterations in personal, social, academic or occupational functioning.
Depending on the person and their situation, these conditions may be considered as natural (neuro) diversity, difference, neurodivergency and/or as difficulties, disorders or disabilities (see Box 1.1). There is typically a strong genetic component behind them, meaning that they can cluster in families. In addition, they often seem to co‐occur in the same individual.
Two of the main classification schemes in healthcare, the International Classification of Diseases (ICD) and the Diagnostic and Statistical Manual of Mental Disorders (DSM) (see Figure 1.1), define what conditions are classed as neurodevelopmental disorders. Both of these are well‐established, internationally recognised systems and at the time of writing are in their 11th and 5th iterations, plus further text revisions for the latter. While they continue to use slightly different terminology for some conditions, they have become more closely aligned over the years. This is helpful in ensuring the use of consistent terms. That is important, because consistent language can be helpful for clinicians who make diagnoses, but also for researchers, patients, carers and other professionals.
Table 1.1 lists some of the conditions classed as neurodevelopmental disorders; as you can see, the lists under each classification are very similar. Because the DSM is probably the most widely used system and the one that most people are familiar with, this book will use the DSM terminology.
Even after taking account of the conditions deliberately left out of the list in Table 1.1 for simplicity, there do seem to be some notable omissions. Tic disorders do not appear primarily under the ICD‐11 classification, but instead appear as a secondary class. There are other conditions that could be said to belong in the classification schemes for neurodevelopmental conditions but are not listed. Examples include epilepsy and schizophrenia. Compelling arguments could be made for including these on the lists, although clearly counter‐arguments against locating them there have also been made – and for the moment seem to dominate the discussion.
This demonstrates the somewhat arbitrary nature of classification schemes.
There are other conditions that will be familiar to some people as neurodevelopmental disorders but are not on these lists, for example Asperger's syndrome (see Box 1.2). This illustrates the changing nature of classification schemes. For example, conditions like Asperger's or ‘pervasive developmental disorder not otherwise specified’ have become subsumed within the more overarching term ‘autism spectrum disorder’. There are a number of reasons for this; perhaps the most important is that many conditions are increasingly described as existing on a continuum, with variations in the extent to which individuals with these conditions manifest different features. Whereas previously conditions like autism and Asperger's were seen as more distinct, albeit very similar conditions (similar enough to create a diagnostic dilemma over whether someone had autism or Asperger's), modern terminology sees these conditions as points on a broad spectrum.
A number of different terms are used throughout this text, such as condition, disorder, disability, neurodiversity, neurodivergent and neurotypical, of which brief definitions are given here. The reader should be aware that there may be variations in how these are used outside of this text.
Condition
: A general or specific state of physical/mental health (i.e. ‘you're a highly conditioned athlete’ vs ‘the condition you have is called eczema’). In
ABC of Neurodevelopmental Disorders
the word is therefore frequently used to imply a variation from the ‘usual’ and sometimes in relation to a specific condition.
Disorder
: A condition or illness that affects the usual functioning of the body or mind.
Disability
: A physical or mental condition that has a substantial and long‐term negative effect on the ability to do normal daily activities.
Neurodiversity
: The thinking, perceiving, learning and behavioural variations that exist across all humans (e.g. ‘Neurodiversity is a fact of life’ but
not
‘I am neurodiverse’).
Neurodivergent
: The presence of variations from ‘the norm’ in thinking/perceive/learning/behaving (e.g. ‘I am neurodivergent’).
Neurotypical
: As distinct from neurodivergent. The type of thinking/perceiving/learning/behaving that conforms to what is understood to be ‘usual’ by society and does not fit a recognised pattern of thinking that might be identified as neurodivergent.
Figure 1.1 The classification schemes for neurodevelopmental disorders.
Table 1.1 Comparison of classification schemes ICD‐11 and DSM‐5‐TR for neurodevelopmental disorders (not all disorders are included).
Neurodevelopmental disorders in ICD‐11
Neurodevelopmental disorders in DSM‐5‐TR
Disorders of intellectual development
Intellectual developmental disorders (intellectual disability)
Autism spectrum disorder
Autism spectrum disorder
Attention deficit hyperactivity disorder
Attention deficit/hyperactivity disorder
Developmental motor coordination disorder
Developmental coordination disorder
Developmental learning disorder
Specific learning disorder
Tic disorders, e.g. Tourette's disorder
John is a 25‐year‐old ex‐solicitor. He was originally referred as an 8‐year‐old to see a paediatrician for possible dyspraxia before being diagnosed two years later with Asperger's syndrome. This was followed with being diagnosed with attention deficit hyperactivity disorder (ADHD) just after starting university. He recently left his job after developing a severe anxiety disorder and is currently tutoring law students online from his home in Cambridge. He has always had insomnia, but has found that not having to work ‘office hours’ has worsened his sleep–wake routine and he has just started taking melatonin to help with this. He is wondering if he needs to see the adult autism team to have his Asperger's diagnosis reclassified as autism.
This title of this book contains the word ‘disorders’, but is that the correct term for a person with a neurodevelopmental condition?
When viewed from a clinical point of view, the reasons for the word choice are clear. People do not go to an autism clinic (for example) out of a sense of curiosity. It is generally because they are experiencing difficulties of some sort and they (or their carers/parents/partners) are seeking an explanation for these difficulties and/or some kind of support. But are those difficulties necessarily down to an individual's innate make‐up?
As we see in the case of Jane (Box 1.3), while there may have been notable differences in behaviour from an early age and she was subsequently diagnosed as being autistic, Jane was doing perfectly well until there was a lot of upheaval in her life (because of events not within her control), and once things were resolved she settled down again.
Is it therefore fair in Jane's case to see the autism as a disorder/disability or even as a medical condition when she is perfectly fine in the right environment? This argument can be generalised to state that in neurodivergent individuals, if the environment is right (whether through support or leaving them alone to get on with things unhindered), then although the differences remain the disorder disappears.
Jane is a 12‐year‐old who has been referred by her school with concerns about autism. She was always felt to be a little different to others in class (and at nursery), with unusual interests and a dislike for loud noises. But she was top of her class in all subjects. However, she began to experience problems after her parents separated and she went to live with her mother and new partner. Then she started a new school where she was severely bullied, including being subjected to online abuse; this led to significant school absences followed by concerns that she was developing an anxiety disorder. After delays in support, she moved back to living with her father and went back to her old school where her issues settled down. She was seen and discharged by Child and Adolescent Mental Health Services (CAMHS). When assessed by the autism team, after a lot of discussion she received a diagnosis on the basis that she fulfilled the diagnostic criteria and that a diagnosis would open up more avenues for support if there were future difficulties.
Demian is a 12‐year‐old with autism, ADHD and Tourette's disorder. At school he has struggled greatly with learning because of significant difficulties with concentration, despite a number of classroom adjustments following input from an educational psychologist. Only after commencing on methylphenidate at the age of 9 did he start to make progress and within two years had almost caught up in English. For the last year he has been struggling with tics. His friends in class are very supportive, as are his parents, but he finds the repetitive twitches very unpleasant and their increasing frequency is making him feel disheartened. His paediatrician is considering trialling a medication that may help both his ADHD and his tics.
Dyslexia affects approximately 7% of the UK population. In past centuries when there was far less emphasis on reading, would this have ever caused any problems?
But how generalisable is this viewpoint? In the case of Demian (Box 1.4), the issues seem to be more down to innate/biological features than to do with the environment. To what extent can modifying a person's environment (be it sensory stimulants, people, providing aids) completely ameliorate their difficulties? Will some biological variations always be problematic? Might some features only have been seen as difficult at certain points in history (Box 1.5)?
Seeing things through a purely biological perspective is often termed a ‘medical model’ (of disability), whereas looking at things through a non‐biological perspective is often termed a ‘social model’ (of disability). While different models may be exclusively favoured by different groups, there is an argument that each model may be valid in certain circumstances, but that on their own they do not provide a complete model for how we should see these conditions.
Some of the differences conferred on people with neurodevelopmental conditions also very clearly imbue them with particular strengths and skills, and there are many well‐known examples of individuals with such conditions who attribute part of their success to being different. It is also possible that in past times, or in other ways of life, these conditions may have conferred other benefits on those possessing these differences, and hence to populations with such individuals.
In this sense it is possible to begin to consider whether, and to what extent, neurodivergency reflects a natural variation in how humans experience and interact with the world around them (and how this may be of benefit to the human experience). This can be termed the neurodiversity paradigm. That is not to say that certain states may not leave individuals requiring additional needs/support, but it should lead us to think carefully about how valid the concepts around ‘disorders’ are, and especially so when we start to address whether certain states need to be ‘cured’.
The concept of neurodiversity also makes us think about the language we use to describe these states. Are they disabilities, disorders, difficulties or merely differences/diversities? It is very possible that according to time, place and person, each of these conditions could be seen as either/all.
The intended readership of this book is clinicians, but some of the content will also be of interest to patients, carers and members of the general public.
Most neurodivergent people see clinicians when they are seeking a diagnosis or support with associated difficulties. As such, the focus of this book skews towards the medical model. In order to be consistent with most diagnostic frameworks, medical terminology is used throughout, including most obviously in the title, ABC of Neurodevelopmental Disorders. This is not to neglect the importance of the social model. Clinicians must not fail to think about how a person's environment may be having detrimental impacts on them, whether this is at home, in school, or at work, and must remember that adjustments and changes can have a very significant effect on a person's well‐being.
Neurodevelopmental disorders are important conditions for all clinicians to be aware of because neurodivergent people are relatively common in all populations. Those who are neurodivergent are over‐represented in certain types of clinics such as community paediatrics and psychiatry, but in addition, like everyone else, they get migraines and cancer, they require operations, and they need help with having their babies delivered. But the majority of people delivering healthcare, and those who design healthcare systems, are not neurodivergent themselves, so it is important for those in the majority to think how care can be adjusted to make delivery of care equitable for everyone. This begins with being more aware of the concepts discussed in this book. Awareness of what neurodivergent people think and feel is also important, and this book does not neglect that. As well as some vignettes written by people who identify as neurodiverse, there have been other contributions to the writing, editing and reviewing of this text by neurodivergent individuals.
This book presents an introduction to some of the most commonly encountered or familiar neurodevelopmental conditions. It also addresses common comorbid mental health conditions, because of how frequently they co‐occur in those with neurodevelopmental conditions. After careful consideration, a separate chapter on foetal alcohol spectrum disorder (FASD) has been included. FASD has not yet been classified by DSM‐5‐TR as a neurodevelopmental condition, but it has many features in common with neurodivergent states and it may come to be classified as such in future iterations of the DSM. It is increasingly recognised as being under‐diagnosed, is preventable, and as such is a good exemplar of the role of the environment in aetiology.
Hopefully, by the end of the book, you, the reader, will come away with a broad overview of neurodiversity and neurodevelopmental disorders and understand how individuals who are neurodivergent may present in the clinical sphere, how they are assessed and how they are managed. Further reading is presented at the end of each chapter so that you may explore these evolving, important and fascinating topics in greater detail.
American Psychiatric Association (2022).
Diagnostic and Statistical Manual of Mental Disorders
, 5e. Text Revision. Washington, DC: American Psychiatric Association Publishing.
Glatt, S.J., Faraone, S.V., and Tsuang, M.T. Is schizophrenia a neurodevelopmental disorder. In:
Schizophrenia
, 4e (ed. S.J. Glatt, S.V. Faraone, and M.T. Tsuang), ch. 9. Oxford: Oxford University Press.
Shankar, R., Perera, B., and Thomas, R.H. (2020). Epilepsy, an orphan within the neurodevelopmental family.
Journal of Neurology, Neurosurgery and Psychiatry
91: 1245–1247.
World Health Organization. International Classification of Diseases 11th Revision.
https://www.who.int/standards/classifications/classification‐of‐diseases
Munib Haroon
Attention deficit hyperactivity disorder (ADHD) is defined by the presence of three core presenting features: inattention, hyperactivity and impulsivity.
ADHD develops in childhood but may not be diagnosed until adolescence or later on in adulthood.
ADHD occurs in approximately 5% of children and 3–4% of adults in the United Kingdom.
ADHD is strongly influenced by genetics, but there are a number of environmental risk factors including in utero exposure to tobacco smoke and alcohol, low birthweight, prematurity, a history of head injury/meningitis/encephalitis and exposure to environmental lead.
The features of ADHD can present in many ways and can change over time.
The presentation in women and girls can be subtle, with a tendency for more internalising features to be present as opposed to externalising features.
Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder defined by the presence of three main features: inattention, hyperactivity and impulsivity.
DSM‐5‐TR recognises three main types (Figure 2.1), a predominantly inattentive form, a predominantly hyperactive‐impulsive form and a combined form. ADHD is a chronic condition (the DSM‐5‐TR criteria state that features should have been present for at least six months before a diagnosis can be made), with features present during childhood (before the age of 12). However, a diagnosis may be delayed for many years after the condition starts to cause difficulties with day‐to‐day functioning. It is in the nature of the condition, and part of the diagnostic criteria, that the condition should interfere with day‐to‐day functioning in two or more settings, such as home and school/university or at an afterschool club or at work.
Descriptions of people with ADHD‐like symptoms can be found as far back as the 1770s with Weikard's initially anonymously published text followed by Alexander Crichton's in 1798. Nevertheless, George Still's case series stands out as a landmark in the history of ADHD with its reporting of 43 children with features including inattention and overactivity (and other features that were not hallmarks of ADHD). The study noted many of the findings recognised in modern‐day clinical medicine such as the apparent male : female ratio and onset during primary school years. Yet despite labelling these features as due to a ‘defect of moral control’ and attributing some elements to rearing, Still was prescient in proposing a hereditary component to the condition.
Over the course of the twentieth century, what we now recognise as ADHD became attributed to brain damage, minimal brain damage, or poor child rearing, before becoming recognised as a behavioural syndrome. More recent research has highlighted its genetic underpinnings as well as the contribution made by environmental risk factors.
ADHD has a prevalence of approximately 5% in children in the United Kingdom. Global prevalence estimates vary widely, with ranges of 0.1–10.2% in children and adults, with a figure of 8–10% stated for the United States. The global overall prevalence is estimated to be around 5%. ADHD occurs in about 3–4% of adults in the United Kingdom.
The male : female ratio is approximately 3 : 1. This may be partly due to differences in presentation (see Box 2.1).
ADHD persists in approximately 65% of adults who were diagnosed with ADHD as children.
Figure 2.1 ADHD can be seen as presenting with a combined form where all three of the core features are significantly present or as a predominantly inattentive or hyperactive/impulsive presentation.
There seems to be a difference in how males and females present with ADHD. Girls and women tend to present with more internalising behaviours (inattention, anxiety, depression), while boys and men tend to present with more externalising behaviours (hyperactivity, impulsivity, conduct disorders, substance misuse). Clearly, externalised behaviour is often more apparent and does not rely on the person with the behaviour/difficulties having to understand they have a problem, communicate it to someone else and seek advice/support or help – which can be particularly problematic in childhood. Externalising behaviours can also be more disruptive in different settings and so are again more likely to lead to a referral. There may be some benefit in the use of self‐report scales to help uncover internalising behaviours.
The genetic basis for ADHD has become increasingly clear over time. There are several strands of evidence that point to this:
Parents of children with ADHD are between two and eight times more likely to have ADHD than parents of children without ADHD.
Adoption studies show that adopted children tend to be more similar to their biological parents than to their adopted parents with regard to ADHD.
Twin studies demonstrate that monozygotic twins are more similar with respect to ADHD traits than dizygotic twins.
It is now felt that genetic factors may account for more than 70–80% of the variation.
Multiple studies demonstrate that ADHD is likely to be caused in part by the interaction of many genetic variations that individually are likely to have a small effect, and may be very common, but whose overall effect is cumulative and when sufficiently aggregated in an individual can lead to the condition. There are instances, however, when a rare variant can lead to ADHD in the absence of other genetic risk factors. As well as this, studies also show the common genetic inheritance behind ADHD and conditions such as bipolar disorder and conduct disorder.
A lot of interest has focused on genes regulating dopamine and serotonin transport, because medication used to treat ADHD targets these neurotransmitters. Nevertheless, there is ongoing work to elucidate other gene variants that contribute to ADHD and the associated underlying biochemical and cellular processes and how these relate to different areas of the brain. This is being done through imaging studies, which to date have described several brain variations in those with ADHD. These include reductions in total brain volume and grey matter, delays in brain maturation, as well as variations in brain connectivity. Much of the work has focused particularly on changes to the frontal lobes and the fronto‐striatal connection in people with ADHD. Slowly the links between ADHD genotype and phenotype (at the neuronal, brain and behavioural levels) are becoming clearer (see Figure 2.2).
As well as the role of genetics, it is important not to forget that non‐genetic factors play an important role in the aetiology of ADHD, probably through their impact on the developing brain (see Box 2.2). These include perinatal factors such as low birthweight, a history of maternal smoking and alcohol use. Environmental lead may play a role, as may traumatic brain injuries and meningitis/encephalitis.
Figure 2.2 The underlying brain, neuronal and genetic basis for ADHD is becoming clearer over time.
Antenatal smoking
Antenatal alcohol use
Low birthweight
Lead
Traumatic brain injury
Meningitis/encephalitis
The vignettes in Box 2.3 highlight some of the different ways in which ADHD can present.
The ability to concentrate changes over time. Usually, it is a trait that improves with age. Toddlers do not focus for long periods of time on activities (and are not expected to either), and so differentiating a young child with developmentally appropriate ‘inattention’ from one with ADHD can be difficult. As a result, clinicians in the United Kingdom are often reluctant to make a diagnosis below the age of 6 years.
However, with age things can become clearer, and starting school can typically be a tipping point, when an inability to concentrate in a similar way to other children during lessons or other structured activities becomes clear. Children may also become aware themselves that they are unable to focus well and may report this as an issue.
Tommy is 5 years old. His mum remembers him being hyperactive in utero and states that as soon as he could walk he was ‘off climbing the walls’. He is accident prone and sleeps very poorly, often falling asleep after 11 p.m. and waking before 6 a.m. He finds it hard to get ready for school in the morning and has to be instructed every step of the way, from brushing his teeth to finishing his cereal to going upstairs to get changed – these often have to be repeated since he doesn't seem to take in anything as he's too busy attending to something else.
Jenna is 9 years old. She has been referred by her special educational needs coordinator (SENCO) as she is falling increasingly behind at school. She frequently forgets to do her homework or bring it in and even when she completes it, it is frequently rushed or the work does not seem to have been retained/understood. She is however a very well‐behaved girl who sits at the back of class staring out of the window. She frequently returns home missing items such as books, scarves and gloves and occasionally wearing someone else's coat. She has only now been referred to see a paediatrician because she is falling more and more behind her peers and her parents have started to recognise the true extent of her difficulties.
With age, children are expected to perform increasingly difficult tasks at home and at school, and these require increasing amounts of concentration – which may lead to inattention becoming more apparent.
Inattention can present in different ways depending on age and setting and while it can be obvious, it can often ‘pass under the radar’ or be assumed to be something else. Sometimes there can be a different reason for apparent inattention. This can include hearing difficulties, sleep difficulties, absence seizures, anaemia, thyroid problems or learning difficulties.
While inattention needs to be pervasive for a diagnosis of ADHD to be made (it should be present in more than one setting), variations can occur. Features can sometimes be missed in a very busy or chaotic environment or in a highly structured and routinised environment – whether this is at home or at school. In addition, in free play a child with ADHD may have less noticeable features compared to their peers.
With brain maturity inattention may improve, but it tends to have the longest‐lasting effects out of the three main areas of impairment. It can have a significant impact on many activities of daily living, leading to difficulties at work and home that in turn can have implications for finances and family life.
Box 2.4 demonstrates some of the ways in which the features of inattention can present on a day‐to‐day basis.
The closely related features of hyperactivity and impulsivity need to be assessed in the context of developmental age. A typical todder might seem to have many of the symptoms discussed, but this is entirely typical for their age. At the same time, it is typical for the parents of a child with ADHD to report that their child was hyperactive from the start, sometimes as far back as in utero. Hyperactivity is also something that can become less severe with time and can occasionally recede into the background entirely or manifest as just a lot of excessive fidgeting or a feeling of restlessness. Impulsivity can remain problematic in adulthood even if the hyperactivity improves (see Box 2.5).
Box 2.6 demonstrates some of the main ways in which hyperactivity and impulsivity can present on a day‐to‐day basis.
Making careless mistakes (e.g. inaccuracies when writing).
Not remaining focused during tasks/play (e.g. switching off when reading).
Not seeming to listen during conversations, e.g. not heeding instructions.
Failing to complete tasks or taking a very long time to do so.
Having organisational difficulties (e.g. being messy/disorganised, not doing a series of sequential tasks properly).
Avoiding difficult tasks (not doing homework, procrastinating, starting things but failing to finish them).
Losing items (reports, clothes, bags, phones).
Being easily distracted by people, sounds and sights, and thoughts.
Forgetting daily activities (doing chores, keeping appointments, making calls).