1. F A L L 2 0 1 2
UCSF Autism and Neurodevelopment Program
Greetings from the ANP team
We have had another busy and productive year. Thanks to many of
your efforts, our clinical programs have experienced tremendous
development and research studies have been very active and
successful. Just a couple of months ago, we introduced the UCSF
Autism NeuroGenetics Clinic (ANGC), a collaborative clinic that
brings together autism expertise in neurology and genetics. The
newly formed ANGC is now taking place monthly, making it easier
for our families to receive coordinated care. We continue to work
closely in psychiatry, psychology, genetics and neurology to bring
together our clinical programs for unified evaluation and treatment
that is informed by the latest research findings. We also use the
inspiration from our weekly ANP seminars to drive our clinical care.
The ANP research community is pushing the boundaries of what is
known about autism and related neurodevelopmental disorders. The
addition of our beautiful new neuroscience building at the UCSF
Mission Bay Campus allows us to enjoy innovative techniques for
neuroimaging and behavioral studies. Our scientists are studying
adult outcomes for individuals with autism. We are also investigating
brain activity in agenesis of the corpus callosum, 16p11.2 genetic
variations, and dyslexia. Meanwhile, our labs are conducting studies
of mouse models and stem cells for gene mutations associated with
autism. Finally, we have ongoing intervention trials with computer
training tools, standard medications, and nutritional supplements.
We will highlight these topics as well as the ongoing studies and
recent publications in this newsletter.
As we continue to seek new treatments, we welcome your ideas and
your ongoing support of our mission to integrate personalized care
with innovative research and education for individuals and families
with autism and neurodevelopmental disabilities.
Tips of the Trade
“Motherese” Can Help
Language Development
Auditory Support Strategy:
Young children with language
delay may benefit if you speak
very slowly and clearly with an
emphasis on the most important
word(s)—similar to the way you
talk to a baby. We call this
“motherese.”
Visual Support Strategy: When
possible, show or point to what
you are talking about to
enhance comprehension.
Combined Auditory/Visual
Strategy: If your child sight
reads words, you may be able
to use sight reading to foster
phonics and spoken language
by pointing to and reading
words aloud to help your child
see what he is hearing.
2. UCSF AUTISM AND NEURODEVELOPMENT PROGRAM FALL 2012
Recent ANP Research Findings
We are excited to welcome Dr. Hoeft, an expert in dyslexia and
neuroimaging. Her lab, BrainLENS, uses functional MRI, genetic, and
mathematical approaches to study typically developing children as well as
those with dyslexia and autism. Dr. Hoeft’s studies have recently shown that
neuroimaging measures can predict which children with dyslexia will later
learn to compensate in their reading skills.
Dr. Bent is the lead investigator of the first-ever fully internet-based randomized
controlled trial of an omega-3 fatty acids treatment for autism, with results
expected in early 2013. Stay tuned!
Dr. Marco’s laboratory has recently published a paper looking at how
children with autism process simple touch information. This work reveals
brain processing differences that occur as early as 50 milliseconds after feeling
touch and also suggests that observing real-life responses to sound and touch
may be more informative for understanding brain processes than clinical
labels such as “autism” or “PDD, NOS.”
Dr. Rubenstein’s lab has shown that a loss of a specific gene Dlx1 results in an
imbalance of brain excitation/inhibition that will help researchers in the field
understand the underlying brain function of individuals with autism and
epilepsy. Beyond looking at how the alteration in a single gene affects brain
structure, Dr. Rubenstein and his collaborators explore the way that neurons
talk to each other using mouse models.
Dr. Elliott Sherr’s Lab
Dr. Sherr’s lab has contributed many exciting papers in the last year. With Dr.
Elysa Marco, he has recently shown that individuals who lack the corpus
callosum (the connection between the right and left sides of the brain) have
fundamentally slower cognitive processing and reduced brain connectivity.
Many autism studies have also shown abnormalities of the corpus callosum.
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Fumiko Hoeft’s Lab
Dr. Stephen Bent’s Lab
Dr. Elysa Marco’s Lab
Dr. John Rubenstein’s Lab
Dr. Lauren Weiss’s Lab
Dr. Weiss and colleagues have identified a DNA sequence variation on chromosome
5. The gene SEMA5A, located near this variation, shows reduced expression in
individuals with autism. Her team is currently following up on this finding to look
for additional evidence for the role of SEMA5A in autism and how it might be
connected to other autism susceptibility genes.
3. UCSF AUTISM AND NEURODEVELOPMENT PROGRAM FALL 2012
Dr. Bryna Siegel’s Lab
Dr. Siegel has studied 21-26 years olds with autism followed since age 2-4
years. Some had received early intensive behavioral interventions (EIBI)
and some did not. The highest functioning who had EIBI often lost ASD
diagnoses; a middle group still met ASD criteria but with improved
adaptation. The low group showed no significant difference with EIBI,
but parents felt EIBI had been critical.
UCSF Autism and Neurodevelopment Clinics
• Dr. Bryna Siegel, director of the Autism Clinic for over 20 years, will be retiring from UCSF at
the end of 2012. She will continue to evaluate children and study autism through JumpStart
Learning to Learn (www.autismjumpstart.org). Dr. Siegel can be reached at
bryna.siegel@autsimjumpstart.org. We will miss Bryna tremendously but will continue to
work closely with her in the coming years on shared projects.
• The UCSF Autism NeuroGenetic Clinic with Drs. Marco and Wynshaw-Boris evaluates and
treats children monthly, providing a collaborative evaluation that focuses on finding the
underlying cause of your child’s developmental difference. For more information or an
appointment, you can call our clinic coordinator, Linda Torres at 415-519-9643.
• The Autism Clinic at Langley Porter Psychiatric Institute with Dr. Hendren cares for children
every Tuesday and Wednesday providing in-depth diagnostic evaluation and medication
treatment recommendations. For an appointment, call: (415) 476-7500
• The Cognitive and Behavioral Child Neurology Clinic with Dr. Marco takes place every
Tuesday and provides a comprehensive neurologic evaluation and investigates causes of
neurodevelopmental differences, provides medical management, and works with the family to
assemble a treatment team. For an appointment, have your physician fax a referral to: 415-
353-2400.
• The Neurodevelopmental Pediatrics Clinic for ADHD and Autism at the Osher Integrative
Medicine with Dr. Newmark cares for children daily providing integrative and holistic
treatment by combining conventional medicine with nutrition, behavior management, and
various complementary modalities. For an appointment, call 415-353-7720.
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Enrolling Studies
Can an iPad game improve attention for children with and without neurodevelopmental differences?
(CHR #: 10-01940)
• Eligibility: Children, ages 8-12 years, with and without ASD, sensory processing differences, and
ADHD.
• Contact: Shivani Desai: 415.640.2680, desais@neuropeds.ucsf.edu
Why are some RASopathy associated features different among affected people? (CHR #: 10-02794)
• Eligibility: Neurofibromatosis type 1, Noonan, Costello, or cardio-facio-cutaneous syndrome
(CFC); all ages.
• Contact: Iris Corbin: 415.476.6988, iris.corbin@ucsf.edu
Why do more boys than girls have autism? (CHR #: 10-02794)
• Eligibility: ASD diagnosis (Autism, Asperger’s syndrome, PDD-NOS); all ages.
• Contact: Iris Corbin: 415.476.6988, iris.corbin@ucsf.edu
4. More Studies!
What is the effect of 16p11.2 variations on brain and behavior? (CHR #: 11-06454)
• Eligibility:16p11.2 variations and Neurotypical Controls; all ages
• Contact: Polina Bukshpun: 415.502.0183, BukshpunP@neuropeds.ucsf.edu
What is the relationship between oxytoxin, autism and social function? (CHR #: 11-08189)
• Eligibility:children with and without autism who are receiving a clinically indicated lumbar
puncture.
• Contact: Brieana Fregeau: 415.502.8039, fregeaub@neurology.ucsf.edu
Does oxytocin help communication between parents and children with autism? (CHR #10-04286)
• Eligibility: Child (14-28 yrs) and parent/caregiver (30-60 yrs)
• Contact: Olivia Lam 415-484-5132
Does the drug memantine help children with autism with communication and socialization? (CHR
#: 10-01867)
• Eligibility: ASD diagnosis (Autism, Asperger’s, PDD-NOS); ages 6-12
• Contact: Felicia Widjaja: 415-476-7803, Felicia.widjaja@ucsf.edu
Does Vitamin D help children with autism? (CHR #: 11-06899)
• Eligibility: Autism; ages 3-8
• Contact: Felicia Widjaja: 415-476-7803, Felicia.widjaja@ucsf.edu
Does the digestive enzyme CM-AT help children with autism? (CHR #: 10-03510)
• Eligibility: Autism; ages 9-12
• Contact: Felicia Widjaja: 415-476-7803, Felicia.widjaja@ucsf.edu
5. Have a wonderful Fall!!
The UCSF Autism and Neurodevelopment Program
ANP.ucsf.edu
Please forward to friends and groups who may be
interesting in knowing about our studies
FALL 2012
If you would not like to receive newsletters in the future,
our feelings will not be hurt. Simply email or call
Shivani Desai at desais@neuropeds.ucsf.edu or 415-640-
2680.