Here is Emily's diagnosis letter from our developmental pediatrician. It says exactly what I can't find the words to say. It is edited for identifying elements only.




Dear Dr. M:

I had the pleasure of consulting on your patient, Emily, a 2-year-11-month-old girl whose parents have brought her to the Center for Developmental and Behavioral Pediatrics for the evaluation of her development.

Emily has qualified for services through the early intervention system based on language delays, but she is only receiving about one hour per week of programming. Her parents are seeking a diagnosis for her delays. She does have delays in language, problems with social engageability, and dominating interests.

In terms of her language, she has only about 100 words or less, and she mostly talks in one-word phrases, which is clearly delayed for a 2-year-11-month-old girl. She does some pointing now. There was awhile when she was not indicating what she wanted and would just cry. She does follow most “give” and “get” commands fairly readily, but she cannot answer questions that are more abstract such as, “What are you doing?” Most of the time she takes her parents’ hands to get what she wants. She will nod and seem to indicate what she wants, but she does not really make meaningful choices. She cannot point to various actions that are happening on the page of a book. She makes some animal sounds and imitates just her favorites, which include horses, dogs, and cats. Altogether, there is very little spontaneous speech and a real difficulty with interactions.

Socially, she does not interact the way a child her age should. She likes being around people but is often doing more parallel play. She can do some simply pretend play such as running a train on a track, feeding a baby doll, or putting a phone up to her ear. She can sometimes be shy, manipulative, and mischievous, which indicates some awareness of social norms. For instance, she will go after her siblings’ toys to make them mad. She also intrudes on people’s personal space, but in this case, she does not seem to understand that this is a problem. She does like rough-housing, chase games, and simple sensorimotor play.

She has a number of dominating interests. She does like to play by herself. She likes horses, cats, and dogs. She will pretend to be different animals. She will play with little characters and she will do so at length without referencing or including other people.

She does have behavioral issues. She is quick to become frustrated but she recovers fairly quickly. She can be intrusive and purposefully aggravating. She will throw temper tantrums frequently throughout the day.

She does not have much in the way of sensory issues. She has fairly good fine and gross motor control. She does not like adults to sing. She is very oral and puts things in her mouth. She does not mind loud noises. She likes to be barefoot.

PAST MEDICAL HISTORY: Past medical history reveals that her mother’s pregnancy was characterized by the loss of a twin early in the pregnancy with subsequent threatened premature labor requiring terbutaline. The mother also took Zofran and Phenergan for nausea and vomiting. Eventually, the pregnancy went to term and Emily was born by normal induced vaginal delivery. Subsequently, there was one hospitalization for rotavirus. Emily did suffer from failure to thrive beginning at around 5-8 months. She was subsequently placed on Neocate formula until she was over two years old. Subsequently, she “turned the corner” and did better. But in the meantime, she seemed to have food allergies to all kinds of foods that resulted in choking, turning blue, vomiting, diarrhea, as well as bloating. She was finally diagnosed as having allergic colitis.

REVIEW OF SYSTEMS: Review of systems reveals that she now can eat a variety of foods. She is a big milk drinker, which is possibly associated with frequent upper respiratory infections. She snores, she mouth breathes, and she drools. She “needs her adenoids out.” She sleeps fairly well most of the time but does wake up occasionally. She has some trouble falling asleep. She has no problem with urination or defecation now, but she is not toilet-trained. She has no problems with hearing or vision.

FAMILY HISTORY: Family history is significant for autistic-like symptoms in a maternal cousin, and one maternal cousin who also has some mild cognitive delays. On the father’s side of the family, there are two paternal aunts, one on each side of the father’s family, who have cognitive impairments. Emily’s brother, Alex, was diagnosed by me as having pervasive developmental disorder bordering on Asperger’s syndrome, as well as attention-deficit disorder.

SOCIAL HISTORY: Social history reveals a stable nuclear family with fairly good social support. The dad is a medical resident ***. The mother is going to school for her Masters in education, which she is doing online. The family moved from *** for the father’s residency in May 2006. Overall, Emily is described as somewhat challenging. She has a difficult, fairly stubborn temperament. She is not particularly easygoing.

OBSERVATIONS IN THE OFFICE SETTING: Observations in the office setting revealed Emily to be an alert, well-developed, well-nourished-appearing, young girl who was in no apparent distress. She had no real dysmorphic features, although she does have a small midface and somewhat hyperteloric eyes. I thought that her right pupil seemed a little bit enlarged compared to her left pupil. She definitely has a large head circumference. She took a little while to warm up but she eventually did so, and I got to see a good sample of her ability to interact. She was not typical in her social wherewithal, and her language was poor for age. She did interact with her brother, mother, and eventually me with some good initiation, some simple use of language, and some ability to sustain interactions. However, most of her play involved carrying a little horse around throughout most of the time spent. She did not have the type of eye contact or ability to play that would be typical of a nearly 3-year-old girl.

ASSESSMENT: My assessment is that Emily May is a 2-year-11-month-old girl with a significant history of delays in language, problems with social interactions, and repetitive behaviors that qualifies her as being on the autistic spectrum. It is my opinion that she has a mild autistic disorder bordering on pervasive developmental disorder not otherwise specified.

Today, I made an audiotape for the family that emphasized importance of the following set of interventions based on the findings of the 2001 National Research Council report (http://www.nap.edu/books/0309072697/html):
Twenty to 25 hours per week of intervention
With a one-on-one or one-on-two teacher-to-child ratio
That is engaging
Has a strategic direction
And starts early (between the ages of 18 months to 5 years)

Typically these interventions include:
special education,
speech and language therapy and
occupational therapy.
Intensive behavioral/developmental interventions of either the ABA or DIR types are essential! I suggested that the family enroll ­­­­­­­­­­­­­­­­ Emily in the P.L.A.Y. Project, which will train the family to provide 2 hours per day of intensive intervention.

I provided a packet of information on all of these interventions and highly recommended two websites:
1. The Your Child website (http://www.med.umich.edu/1libr/yourchild/autism.htm), an important and reliable source of information on autistic spectrum disorders as well as other developmental/behavioral issues.
2. The P.L.A.Y. Project website (http://www.playproject.org) where families can obtain information on our play-based approach.

Today, I am recommending that the family participate in The P.L.A.Y. Project through our center here. I also recommended that the family look into The HOPE Center at ***, and I encouraged them to enroll Emily in the special education preschool program, as well as seeking an extended school year.

I would like to see Emily back in six months.

I thank you very much for allowing me to consult on her.

Sincerely,

R. S., M.D.
Medical Director