Sailaja Golla

Children's Hospital of Orange County | CHOC

Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant datab...

A previously healthy 6-year-old boy presented with new onset seizure activity and altered mental status. His prehospital course included prolonged fever, vague abdominal complaints, and unusual behavior. Neurological testing was unrevealing, and his symptoms slowly improved without intervention. His primary pediatrician had ordered serum antibody t...

Autism spectrum disorder (ASD) is an increasingly common neurodevelopmental disorder that has a wide variety of etiologies. Patients with autism have deficits in social communication and restricted and repetitive behaviors and interests. Cognitive abilities are variable ranging from profound intellectual disability to above average intellectual cap...

In this pilot study, we evaluated the long-term neurodevelopmental outcomes in neonatal and pediatric patients supported by extracorporeal membrane oxygenation (ECMO) and aimed to identify the role of post-ECMO MRI in predicting neurodevelopmental outcomes. Twenty-nine patients were evaluated using the Ages and Stages Questionnaire, Third Edition (...

Pitt-Hopkins syndrome (PTHS) is a rare, genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. PTHS is characterized by syndromic facies, psychomotor delay, and intellectual disability. Other associated features include early-onset myopia, seizures, constipation, and hyperventilation-apneic...

Background Exon-targeted microarrays can detect small (<1000 bp) intragenic copy number variants (CNVs), including those that affect only a single exon. This genome-wide high-sensitivity approach increases the molecular diagnosis for conditions with known disease-associated genes, enables better genotype–phenotype correlations, and facilitates vari...

We performed a retrospective matched case-control study evaluating whether the traditional coagulation profile predicts cerebrovascular events in children on extracorporeal membrane oxygenation (ECMO) in a 71 bed intensive care unit at a tertiary children's hospital. Between 2009 and 2014, 241 neonates and children were initiated on ECMO. The cumul...

Objective There is a paucity of objective, quantifiable indicators of mitochondrial disease available for clinical and scientific investigation. Methods To this end, we explore intramyocellular lipid (IMCL) accumulation noninvasively by 7T magnetic resonance spectroscopy (MRS) as a reporter of metabolic dysfunction in MELAS (mitochondrial encephal...

Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed phenotypic information on 52 individuals from 16 families with CLCN4-related disorder: 5 affected females and 2 affected males with a de novo v...

Autism spectrum disorders (ASD) is a group of neurodevelopmental disabilities, which typically first appear in childhood and are characterized by significant difficulties in social, communicative, and behavioral functioning. Although no one single cause has been found, it is suspected that many etiologies have a common final pathway within early ne...

Most children with an autism diagnosis rarely have an etiology that can be identified as the cause for their behavior. However, there are well-described syndromes that are clearly associated with the development of the autistic phenotype. For children in whom no clear etiology can be found, the term idiopathic or primary autism is applicable. By co...

Background Point mutations or genomic deletions of FOXF1 result in a lethal developmental lung disease Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. However, the clinical consequences of the constitutively increased dosage of FOXF1 are unknown.Methods Copy-number variations and their parental origin were identified using a comb...

Point mutations and genomic deletions of the CDKL5 (STK9) gene on chromosome Xp22 have been reported in patients with severe neurodevelopmental abnormalities, including Rett-like disorders. To date, only larger-sized (8-21 Mb) duplications harboring CDKL5 have been described. We report seven females and four males from seven unrelated families with...

Some children with autism spectrum disorders (ASD; 15% to 30% of patients) show a significant and persistent regression in speech and social function during early childhood. There are no established treatments for the regressive symptoms. However, there are some known causes of this type of regression, such as Rett syndrome and Landau-Kleffner synd...

Cerebral blood flow, hemodynamics and metabolism in patients receiving ECMO therapy were assessed by combined TCD and frequency-domain NIRS, with a goal to understand the risks of neurologic injuries associated with ECMO-related factors.