Autism: Diagnosis, Practical tips and Family preferences

What´s normal, This?

Alterations in motor and cognitive development are a diagnostic challenge for the pediatrician and family doctor. Sometimes there are subtle appreciations detected by the family that require confirmation and follow-up. Other times, medical processes appear

that hinder or mislead the diagnosis of the basic process, as occurs with the set of entities framed within the term “autism”. The name itself does not describe any particular situation, it produces a diagnostic generalization that does not correspond to the particularity of each child. In addition, the name itself suggests that something is missing, when in many cases ,some characteristics that are used to place the diagnostic label may be present to a greater or lesser degree in the “normal” population.

The situations known as autism are the appropriate example that shows that the diagnosis is a “process”  over time, given that a period of follow-up and observation is required to confirm or refute this clinical entity. In any case, it is a difficult diagnosis, which requires a high index of suspicion and an exquisite professional attitude.

Or this?

Autism spectrum disorder (ASD) is characterized by impaired social  communication, and by restricted, repetitive behaviors. It is a difficult diagnosis usually facilitated by the participation of the parents who are able to detect subtle details in the child or toddler.

Clinical Framework for Diagnosis

Pediatricians and parents should be aware of the possibility of the emergence of ASD after the detection of reduced motor control and attention during the first year, following by impairments in visual tracking and fixation on objects, limited toy play and repetitive actions with toys, and problems for eye gaze, orienting to name,  language problem and difficulty to learn new skills. There are specific Checklist to help in the Diagnosis, one of the,  The Modified Checklist for Autism in Toddlers (M-CHAT) , that includes a broad range of developmental domains.

The child’s hearing should be assessed by an audiologist and the pediatrician should be aware of the high incidence of epileptic seizures in this population.

Autism in Adults

The presence of traits related with ASD can be present in some individuals in the adult life.  The symptoms must be present in the initial period of life, but may be masked through an adaptation to the familiar or work environment. Moreover, there are also high rates of concurrent medical and psychiatric diagnoses.

There are also information related to ASD in girls and women, whic h, on average, are diagnosed later than boys and men.

Family preferences and a Diagnostic Team

Usually the diagnosis of ASD is made by a pediatrician, a specialist pediatrician, a neuro-pediatrician or even a child psychiatrist. There are some tendences in the literature to speak about a “multidisciplinary team” in charged of the situation, but there are also families with a preference for a well-trained general pediatrician.

The principal worries for a family during the diagnostic process are associated with the long wait time for a definitive diagnosis, number of professional involved during the process and a lack of collaboration with the providers. Parents appreciate a good information about organization and services and about prognosis and the plan to follow. Using the information of several studies about family preferences the following are suggestion for a better diagnostic disclosure: transmit knowledge about ASD, be friendly, understand the family´s needs, use good communication skills, provide a list of resources and interventions, provide follow-up, discusse prognosis and provide hope. The summary of all these good skills is that a family with a child with a diagnosis of ASD needs reassurance, a good communication and clear plan to follow-up, including a list of resources and institutions that could facilitate a good support and therapy.


Autism Spectrum Disorder can be recognized early in infants and toddlers, putting together clinical symptoms associated with the  development of motor abilities, and visual and cognitive achievement. An early detection will allow early care and treatment to begin.

Author: Lorenzo Alonso.Foro Osler


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