Understanding Rare Neurodevelopmental Conditions: Genetics, Development and Professional Practice

This book offers a clear and compelling guide to rare and ultra rare neurodevelopmental conditions, bringing together the science of genetics, the range of developmental outcomes, and the varied experiences of families. It introduces readers to the essentials of human genetics before exploring the chromosome anomalies, single gene variants, mitochondrial disorders and epigenetic influences that shape more than one hundred rare conditions. Alongside explanations of genomic testing technologies and the interpretation of laboratory findings, the book examines the cultural, ethical and global contexts that influence diagnosis and care.

A strong developmental lens highlights behavioural phenotypes, developmental trajectories and the wide variability seen across childhood, adolescence and adulthood. Case studies, family stories and examples from clinical practice bring the science to life, offering practical insights into communication, collaboration and compassionate professional practice. Boxed explanations, diagrams and a comprehensive glossary support readers who may be new to genetics, making complex information both understandable and engaging to postgraduate students and professionals in medicine, psychiatry, paediatrics, genetics, genetic counselling, psychology, speech and language therapy, occupational therapy, physiotherapy, social work, special and inclusive education, and early childhood education, as well as community practitioners, policy professionals and families seeking a grounded, accessible introduction to neurodevelopmental diversity.