The author explains methods for the identification and evaluation of delayed development in children. This article reviews core principles of development in children. Evaluation methods aimed at the identification of developmental problems in primary care and specialty care will be discussed. The specialty medical evaluation and management of children with identified developmental disorders will be reviewed, including recommendations about genetic testing.
• Development proceeds in an orderly, timed, and sequential process that occurs in a predictable fashion.
• Developmental delay is abnormal development, which can be classified as delay, deviance, dissociation, and regression.
• First-line genetic evaluation for developmental delay and autism spectrum disorders includes a chromosomal microarray and fragile X testing.
• A child with a developmental disability should have an identified medical home as a child with special health care needs.
Historical note and terminology
Modern approaches to the evaluation of development in children traces back to the pioneering work of Arnold Gesell, pediatrician and psychologist at the Yale University School of Medicine, and his collaborator, Catherine Amatruda. Dr. Gesell focused on early child development, leading to popular writings such as The First Five Years of Life (Gesell 1940). He and Amatruda also created a new science of developmental evaluation with the 1941 publication of Developmental Diagnosis - Normal and Abnormal Child Development - Clinical Methods and Pediatric Applications (Gesell and Amatruda 1941). They described developmental examination of the infant and linked problems in development to medical problems, including prematurity, thyroid disorders, seizures, cerebral palsy, visual disorders, and hearing impairments and later emphasized the link between the fetus and postnatal child development in The Embryology of Behavior (Gesell and Amatruda 1945).
The art of medical developmental diagnosis continued with Gesell's protégés, Hilda Knobloch and Benjamin Pasamanick. The works of Europeans, such as Illingworth's The Development of the Infant and Young Child—Normal and Abnormal, as well as publications by Ronnie MacKeith, Martin Bax, and Mary Sheridan in Great Britain, and Andre Thomas and Saint-Anne Dargasies in France, were also instrumental. More contemporary works that have emerged from the teachings of Gesell include the newborn examinations of Lilly Dubowitz, Claudine Amiel Tison, T. Berry Brazelton, Heinz Prechtl, and colleagues (Prechtl 1984; Brazelton and Nugent 1995; Dubowitz et al 1999; Dubowitz et al 2005; Amiel-Tison and Gosselin 2001). Capute extended Gesell's work to cerebral palsy with the Primitive Reflex Profile (Capute et al 1984) and to intellectual and language development with creation of the Capute Scales (Accardo and Capute 2005).
Gesell and Amatruda originally classified development into several skill areas: motor, language, adaptive, and self-help. The development of movement is now further divided into gross motor and fine motor. The development of language is subdivided into expressive, receptive, and pragmatic language. Self-help and adaptive skills have been merged by many evaluators. In an attempt to provide the earliest views of infant intelligence and learning, Capute merged early gross motor, fine motor, and adaptive skills into a visual motor or problem-solving area and merged language and personal-social skills in the Capute Scales. Capute also re-coined these areas “streams” rather than “fields” in order to highlight their parallel and continuous development and the dynamic process of development (Accardo et al 2008).
In creation of the science of developmental diagnosis, Gesell and Amatruda compared typical developmental patterns with those seen in the child being evaluated. Typical development is based on documented sequences of skill emergence, and the age norms for when these skills are observed. Gesell established the first set of norms by recording the skill acquisition of children seen in his clinic, establishing that an orderly, timed, and sequential process of development occurred in a predictable fashion. This allowed for identification of both normal and abnormal patterns. They also introduced the concept of developmental quotient (DQ), a comparison of a child's chronologic age and his developmental age, expressed as a ratio.
By combining public health methods of population screening for disease with the methods introduced by Gesell, William Frankenburg aimed for widespread identification of developmental disorders (Frankenburg and Dodds 1967). Paul Dworkin further described the process of embedding developmental monitoring into the process of surveillance as recommended by both major British and American pediatric organizations (Dworkin 1989). In the American Academy of Pediatrics policy statement on developmental surveillance and screening, surveillance is used to describe the continuous, informal tracking of a child's development (American Academy of Pediatrics 2006). Screening implies the use of a standardized test at discrete age intervals on all children. Developmental evaluation, as introduced by Gesell, describes the more complex process used for establishment of a developmental diagnosis.
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