Center Event Calendar

Transition to Adult Healthcare for Young Adults with Autism

Adolescence is a time of transition for young adults and their families, with young adults entering the workforce and parents deciding on financial and legal issues. The purpose of this presentation is to help young adults and their families through the process of transition to an adult primary care provider.

Presentation Objectives:

Participants will:

Autism, Intellectual and Developmental Disabilities, and Law Enforcement Interactions

This presentation will provide an overview of the steps the Montgomery County Department of Police have taken to ensure positive, effective interactions between law enforcement and the Autism/Intellectual and Developmental Disability (IDD) communities. Attendees will be provided safety informational tools they can pass on to those they serve, and will leave with an increased understanding of the dynamics of Law Enforcement and the Autism/IDD communities.

What is ABA and How Can it Help My Child?

This workshop will incorporate video examples and hands on activities to improve your understanding of what ABA is and how it can be used to teach new skills and decrease problem behaviors.

Toilet Training for Children with Autism: Strategies for Success

This presentation will provide user friendly strategies and practical tools for parents of children with developmental concerns to facilitate their children’s toilet training skills. Parents are encouraged to bring questions!

Presentation Objectives:

Participants will:

Request an Inpatient Admission - Request Received

Thank you for requesting a review for inpatient admission at Kennedy Krieger Institute. A representative from our Intake Team will contact you shortly about your inquiry.

Katie Willmott,'s picture

WJZ-TV: Kennedy Krieger Program Helps Parents Of Sick Kids Holiday Shop In-House, For Free

Snoasis, a program that provides parents and families staying at Kennedy Krieger's inpatient center an opportunity to shop for their child receiving treatment and their siblings, is highlighted in this WJZ-TV segment. The program, now in its third year, features tables of donated toys and items for parents to choose from, bringing holiday cheer to the 35 families staying at Kennedy Krieger over the holiday season.

Mark McIntosh,'s picture

Diffusion tensor imaging in Joubert syndrome.

Neuropathologic findings and preliminary imaging studies demonstrated the absence of pyramidal tract and superior cerebellar peduncular decussation in individual patients with Joubert syndrome (JS). We hypothesized that functional-structural neuroimaging findings do not differ between the genetic forms of JS.MR imaging was performed with a 3T MR imaging-unit. Multiplanar T2- and T1-weighted imaging was followed by diffusion tensor imaging (DTI).
Author: 
Huisman TA
Mark McIntosh,'s picture

Cerebellar cleft: a form of prenatal cerebellar disruption.

In contrast to malformations, cerebellar disruptions have attracted little interest in the literature. We draw attention for the first time to the hypothesis that cerebellar clefts are residual changes following a prenatal cerebellar insult, and represent disruptions. We reviewed the clinical records and MR findings of six patients with a cerebellar cleft, two of whom also had prenatal MRI at 24 weeks of gestation. The clefts were located in the left cerebellar hemisphere in five cases, in the right in one patient.
Author: 
Boltshauser E
Mark McIntosh,'s picture

Cognitive outcome in children with rhombencephalosynapsis.

Rhombencephalosynapsis is a rare congenital cerebellar malformation increasingly recognized by prenatal and neonatal neuroimaging.
Author: 
Boltshauser E
Mark McIntosh,'s picture

Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis.

Gomez-Lopez-Hernandez syndrome (GLHS) is a rare syndrome comprising the triad rhombencephalosynapsis (RS), parietal alopecia, and trigeminal anesthesia. Other typical findings are skull abnormalities, craniofacial dysmorphic signs, and short stature. Intellectual impairment is typical but cases with normal cognitive functions have also been reported. Only 15 cases of GLHS have been described so far, all sporadic. We report four further patients with GLHS: one neonate, two children and a middle aged man.
Author: 
Boltshauser E
Mark McIntosh,'s picture

Outcome of severe unilateral cerebellar hypoplasia.

Complete or subtotal absence of one cerebellar hemisphere is exceptional; only single cases have been described. We aimed to assess the long-term outcome in children with severe unilateral cerebellar hypoplasia (UCH).As part of a retrospective study we describe neuroimaging features, clinical findings, and cognitive outcomes of seven children with UCH (five males, two females; age at first magnetic resonance imaging [MRI]: median 1y 3mo, range 9d-8y 10mo; age at latest follow-up: median 6y 6mo, range 2y 3mo-14y 11mo).One child had abnormalities on prenatal MRI at 21 weeks' gestation.
Author: 
Boltshauser E
Mark McIntosh,'s picture

Normal cognitive functions in joubert syndrome.

Developmental delay and subsequent impaired cognitive functions are present in almost all patients with Joubert syndrome (JS). We report on a 20-year-old woman with mild clinical signs of JS (minimal truncal ataxia and oculomotor apraxia) but typical molar tooth sign on neuroimaging, normal full scale (IQ=93), verbal (IQ=93), and performance intelligence quotient (IQ=94). Only minor difficulties in visual-spatial organization and in some executive functions could be detected. This pattern of deficits is partly reminiscent of the cerebellar cognitive affective syndrome.
Author: 
Boltshauser E
Mark McIntosh,'s picture

Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients.

VH and MTS are the neuroimaging hallmarks of JSRD. We aimed to look at the full spectrum of neuroimaging findings in JSRD and reviewed the MR imaging of 75 patients with JSRD, including 13 siblings and 4 patients with OFD VI. All patients had VH and enlargement of the fourth ventricle. The degree of VH and the form of the MTS were variable. In most patients, the cerebellar hemispheres were normal and the PF was enlarged. Brain stem morphology was abnormal in 30% of the patients.
Author: 
Boltshauser E
Mark McIntosh,'s picture

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem characterized the syndrome. Subsequently, the molar tooth sign (MTS) has been found in patients with OFD VI, prompting the inclusion of OFD VI in JSRD. We studied the clinical, neurodevelopmental, neuroimaging, and genetic findings in a cohort of 16 patients with OFD VI.
Author: 
Boltshauser E

Pages

Appointments & Referrals

FIND A SPECIALIST

Publications

Read inspiring stories, news and updates about the Institute's patient care, research, special education, professional training, and community programs.

 

Resource Finder

 

A free resource that provides access to information and support for individuals and families living with developmental disabilities.