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INTRODUCTION

This chapter introduces clinical algorithms for the genetic causes and evaluation of relatively common pediatric conditions such as disorders of growth and development, seizures, hearing loss, and other diagnoses where genetic causes account for a significant proportion of the etiology of the condition. These algorithms are primarily focused on genetic causes of the phenotypes, and so when indicated, nongenetic causes should also be considered. These are intended as general guidelines and the approach should be tailored to the specific individual being evaluated, rather than inflexibly applied universally in the evaluation of the specific phenotype.

Diagnostic algorithms:

  • Algorithm 169-1: Intellectual disability

  • Algorithm 169-2: Autism spectrum disorder

  • Algorithm 169-3: Failure to thrive

  • Algorithm 169-4: Neonatal hypotonia

  • Algorithm 169-5: Neonatal seizures

  • Algorithm 169-6: Overgrowth

  • Algorithm 169-7: Short stature

  • Algorithm 169-8: Microcephaly

  • Algorithm 169-9: Cardiomyopathy

  • Algorithm 169-10: Rhabdomyolysis

  • Algorithm 169.11: Hearing loss

INTELLECTUAL DISABILITY

There is a significant overlap between the algorithms for genetic evaluation of autism spectrum disorder (ASD) and intellectual disability (ID) (Table 169-1, Fig. 169-1). Neurodevelopmental abnormalities in multiple syndromes can include ASD or ID and sometimes both. In the “Conditions to Consider” tables, we include syndromes in which the more common presentation will be either ASD or ID, but these are not mutually exclusive.

TABLE 169-1INTELLECTUAL DISABILITY: CONDITIONS TO CONSIDER

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