The following is a description of Pitt Hopkins syndrome (PTHS), little Victor's diagnosis. PTHS is a very rare genetic disorder for which much is not yet known. No siblings or other family members have been reported with PTHS. A single functional copy of the TCF4 gene is a cause of Pitt Hopkins syndrome. The other copy is deleted or is inactivated by a mutation. The literature has described PTHS as being characterized by developmental and motor delays, hypotonia (low muscle tone), ataxia, hypoplasia of the corpus callosum, possible seizures, daytime hyperventilation, mild growth retardation, and distinctive facial features. However recent findings show that there is significant variability from person to person, and not all children have each of the classic characteristics of PTHS. Victor is doing very well in his development, and we are delighted with all the new things he is learning.We wanted to give you a snapshot of how Victor is doing at this time (2 years, 10 months). We are so proud of how hard he tries!
Victor is a very happy child, who loves to meet and interact with everyone--a real social butterfly. He adores all parties and social occasions. He has wonderful eye contact, and tries to get people's attention by smiling at them or going up to them while we are out. Victor sometimes holds his breath for a few seconds when he seems to be feeling badly. He has dysphasia, which is a swallowing disorder, and has to have his liquids thickened to a nectar consistency. He has a problem with drooling, and we have designed cool terry velour, bandana-style bibs for Victor to wear. Victor is developmentally delayed. He started sitting up on his own at 11 months, crawling/bunny hopping at 14 months, and began walking at 28 months. Victor wears braces on his feet and ankles which help give him proper alignment and added support when walking. He has a little bit of an ataxic gait pattern and is still falling some. He walks around our home safely, but needs assistance on other hard surfaces. We are in the process of getting Victor a wheelchair to use at school when he is outside of the classroom (he will start this Fall when he turns 3).
When Victor gets excited about something he sees, he sometimes flaps his hands up and down before he reaches for the object. He also likes to tip his head to one side then the other when he is looking at someone or something he likes, with a big smile on his face. He is very interested in hands, and likes to hold your hand and look at how it moves and also at your jewelry and watch. He is very curious, and investigates all things in his environment--including drawers and cabinets. Victor loves music, and always recognizes his favorite songs. He has a toddler Playskool MP3 player, and he will press the button until it comes to a favorite song, and smile as he listens to it. Just lately he has been experimenting with two year old behavior of wanting to get his own way. He will plop down on the floor and cry out to us. We guess this is a good thing developmentally, but it is both humorous and a little challenging at the same time.
Our family is bilingual, and we have been speaking to Victor in both English and Spanish since he was born (Paul is originally from Peru). Victor understands both languages equally. At 2 1/2, Victor has a consistent word, "no" (the same in English and Spanish), says "uh-huh," when he likes something, is working on other words, and has developed some gestures/signs to communicate. He gives hi-fives ("dame cinco"), pats his side for "mine," or "I want," claps his hands together to sign "more" or "mas," and crosses his arms across his chest for "all done" "terminaste." Victor's receptive language skills are more advanced than his expressive language skills. He understands many one-step commands/or phrases, such as "No" (he complies when we tell him "no"--he may need another reminder if he tries again), "Let's go swing" (he goes to his swing or looks out the window at his swing), "Do you want to eat" (he starts smacking his lips together, like giving a kiss), "Parate" or "Get up" (he stands up from the floor), or "Give me the spoon" (he places it in your hand).
Victor pays close attention to people's emotions, and is very sensitive to getting in trouble--he often feels sad about being reprimanded or others being reprimanded, and is also thrilled when he is praised. We help him learn new things through prompting, repetition, and redirection, and we all learn a great deal from his physical, occupational, and speech therapists. Victor loves toys with cause and effect, music, looking at books, swinging, kicking a soccer ball, going down a slide, dancing (he moves his knees up and down) and many other things--he enjoys everything that life has to offer!
